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    FAM135A family with sequence similarity 135 member A [ Homo sapiens (human) ]

    Gene ID: 57579, updated on 5-Mar-2024

    Summary

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    Official Symbol
    FAM135Aprovided by HGNC
    Official Full Name
    family with sequence similarity 135 member Aprovided by HGNC
    Primary source
    HGNC:HGNC:21084
    See related
    Ensembl:ENSG00000082269 AllianceGenome:HGNC:21084
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KIAA1411
    Summary
    Predicted to be involved in cellular lipid metabolic process. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in esophagus (RPKM 17.6), prostate (RPKM 12.9) and 22 other tissues See more
    Orthologs
    mouse all
    NEW
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    Genomic context

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    See FAM135A in Genome Data Viewer
    Location:
    6q13
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (70413508..70561174)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (71594068..71741718)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (71123211..71270877)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377848 Neighboring gene Sharpr-MPRA regulatory region 4194 Neighboring gene uncharacterized LOC105377847 Neighboring gene long intergenic non-protein coding RNA 1610 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17318 Neighboring gene FAM135A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24731 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24732 Neighboring gene RNA, U7 small nuclear 48 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17319 Neighboring gene succinate dehydrogenase complex assembly factor 4 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:71310594-71311158 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:71318535-71319052 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:71319053-71319569 Neighboring gene spermine synthase pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Convergent animal and human evidence suggests a role of PPM1A gene in response to antidepressants. Malki K, et al. Biol Psychiatry, 2011 Feb 15. PMID 20970119
    2. Genome-wide searching of rare genetic variants in WTCCC data. Feng T, et al. Hum Genet, 2010 Sep. PMID 20549515, Free PMC Article
    3. Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2000 Feb 28. PMID 10718198
    4. Spatial proteomics reveal that the protein phosphatase PTP1B interacts with and may modify tyrosine phosphorylation of the rhomboid protease RHBDL4. Ikeda KN, et al. J Biol Chem, 2019 Jul 26. PMID 31177093, Free PMC Article
    5. RNF43 inhibits WNT5A-driven signaling and suppresses melanoma invasion and resistance to the targeted therapy. Radaszkiewicz T, et al. Elife, 2021 Oct 27. PMID 34702444, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LncRNA MIR17HG Suppresses Breast Cancer Proliferation and Migration as ceRNA to Target FAM135A by Sponging miR-454-3p.
      Title: LncRNA MIR17HG Suppresses Breast Cancer Proliferation and Migration as ceRNA to Target FAM135A by Sponging miR-454-3p.
    2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Convergent animal and human evidence suggests a role of PPM1A gene in response to antidepressants.
    3. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide searching of rare genetic variants in WTCCC data.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13577, KIAA1411, DKFZp781H2319

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cellular lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    protein FAM135A

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_054903.1 RefSeqGene

      Range
      5105..152771
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001105531.3 → NP_001099001.1  protein FAM135A isoform a

      Status: VALIDATED

      Source sequence(s)
      AB037832, AJ420590, BC131782, DB462733
      Consensus CDS
      CCDS47448.1
      UniProtKB/Swiss-Prot
      Q9P2D6
      Related
      ENSP00000354913.3, ENST00000361499.7
      Conserved Domains (2) summary
      pfam05057
      Location:1048 → 1243
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein of unknown function (DUF3657)

    2. NM_001162529.3 → NP_001156001.1  protein FAM135A isoform c

      See identical proteins and their annotated locations for NP_001156001.1

      Status: VALIDATED

      Source sequence(s)
      AL078591, AL365226
      Consensus CDS
      CCDS55028.1
      UniProtKB/Swiss-Prot
      A2RRQ5, Q3C0H3, Q5JXK0, Q5JXK1, Q68DW0, Q6P081, Q9H0F2, Q9NU48, Q9NUQ5, Q9NXL5, Q9P2D6
      Related
      ENSP00000410768.2, ENST00000418814.7
      Conserved Domains (2) summary
      pfam05057
      Location:1244 → 1439
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein FAM135

    3. NM_001330995.3 → NP_001317924.1  protein FAM135A isoform d

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226
      Consensus CDS
      CCDS83104.1
      UniProtKB/TrEMBL
      D6RCC7

    4. NM_001330996.3 → NP_001317925.1  protein FAM135A isoform e

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226
      Conserved Domains (2) summary
      pfam05057
      Location:1270 → 1465
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein FAM135

    5. NM_001330997.3 → NP_001317926.1  protein FAM135A isoform a

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226
      Consensus CDS
      CCDS47448.1
      UniProtKB/Swiss-Prot
      Q9P2D6
      Conserved Domains (2) summary
      pfam05057
      Location:1048 → 1243
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein of unknown function (DUF3657)

    6. NM_001330998.3 → NP_001317927.1  protein FAM135A isoform f

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226
      Conserved Domains (2) summary
      pfam05057
      Location:1074 → 1269
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein of unknown function (DUF3657)

    7. NM_001330999.3 → NP_001317928.1  protein FAM135A isoform e

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226
      Conserved Domains (2) summary
      pfam05057
      Location:1270 → 1465
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein FAM135

    8. NM_001331000.3 → NP_001317929.1  protein FAM135A isoform g

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226

    9. NM_001331001.3 → NP_001317930.1  protein FAM135A isoform a

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226
      Consensus CDS
      CCDS47448.1
      UniProtKB/Swiss-Prot
      Q9P2D6
      Conserved Domains (2) summary
      pfam05057
      Location:1048 → 1243
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein of unknown function (DUF3657)

    10. NM_001331002.3 → NP_001317931.1  protein FAM135A isoform a

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226
      Consensus CDS
      CCDS47448.1
      UniProtKB/Swiss-Prot
      Q9P2D6
      Conserved Domains (2) summary
      pfam05057
      Location:1048 → 1243
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein of unknown function (DUF3657)

    11. NM_001331003.3 → NP_001317932.1  protein FAM135A isoform f

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226
      Conserved Domains (2) summary
      pfam05057
      Location:1074 → 1269
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein of unknown function (DUF3657)

    12. NM_001331004.3 → NP_001317933.1  protein FAM135A isoform h

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226

    13. NM_001331005.3 → NP_001317934.1  protein FAM135A isoform i

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226

    14. NM_001331006.3 → NP_001317935.1  protein FAM135A isoform j

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226
      Conserved Domains (2) summary
      pfam05057
      Location:850 → 1045
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein of unknown function (DUF3657)

    15. NM_001351599.2 → NP_001338528.1  protein FAM135A isoform e

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226
      Conserved Domains (2) summary
      pfam05057
      Location:1270 → 1465
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein FAM135

    16. NM_001351600.2 → NP_001338529.1  protein FAM135A isoform c

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226
      Consensus CDS
      CCDS55028.1
      UniProtKB/Swiss-Prot
      A2RRQ5, Q3C0H3, Q5JXK0, Q5JXK1, Q68DW0, Q6P081, Q9H0F2, Q9NU48, Q9NUQ5, Q9NXL5, Q9P2D6
      Related
      ENSP00000359510.4, ENST00000370479.7
      Conserved Domains (2) summary
      pfam05057
      Location:1244 → 1439
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein FAM135

    17. NM_001351602.2 → NP_001338531.1  protein FAM135A isoform c

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226
      Consensus CDS
      CCDS55028.1
      UniProtKB/Swiss-Prot
      A2RRQ5, Q3C0H3, Q5JXK0, Q5JXK1, Q68DW0, Q6P081, Q9H0F2, Q9NU48, Q9NUQ5, Q9NXL5, Q9P2D6
      Conserved Domains (2) summary
      pfam05057
      Location:1244 → 1439
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein FAM135

    18. NM_001351607.2 → NP_001338536.1  protein FAM135A isoform c

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226
      Consensus CDS
      CCDS55028.1
      UniProtKB/Swiss-Prot
      A2RRQ5, Q3C0H3, Q5JXK0, Q5JXK1, Q68DW0, Q6P081, Q9H0F2, Q9NU48, Q9NUQ5, Q9NXL5, Q9P2D6
      Conserved Domains (2) summary
      pfam05057
      Location:1244 → 1439
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein FAM135

    19. NM_001351608.2 → NP_001338537.1  protein FAM135A isoform k

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226
      Conserved Domains (2) summary
      pfam05057
      Location:962 → 1157
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:25 → 85
      DUF3657; Protein FAM135

    20. NM_001351609.2 → NP_001338538.1  protein FAM135A isoform l

      Status: VALIDATED

      Source sequence(s)
      AJ420590, AL078591, AL365226
      Conserved Domains (2) summary
      pfam05057
      Location:764 → 959
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:25 → 85
      DUF3657; Protein FAM135

    21. NM_020819.5 → NP_065870.3  protein FAM135A isoform b

      Status: VALIDATED

      Source sequence(s)
      AB037832, AJ420590, BC131782, CR749254, DB462733
      Consensus CDS
      CCDS34481.1
      UniProtKB/Swiss-Prot
      Q9P2D6
      Related
      ENSP00000409201.2, ENST00000457062.6
      Conserved Domains (2) summary
      pfam05057
      Location:1031 → 1226
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:68 → 128
      DUF3657; Protein of unknown function (DUF3657)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      70413508..70561174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419158.1 → XP_047275114.1  protein FAM135A isoform X1

    2. XM_047419165.1 → XP_047275121.1  protein FAM135A isoform X4

    3. XM_047419169.1 → XP_047275125.1  protein FAM135A isoform X8

    4. XM_047419175.1 → XP_047275131.1  protein FAM135A isoform X9

      UniProtKB/TrEMBL
      D6RCC7

    5. XM_005248749.2 → XP_005248806.1  protein FAM135A isoform X6

      Conserved Domains (2) summary
      pfam05057
      Location:1046 → 1241
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein of unknown function (DUF3657)

    6. XM_047419168.1 → XP_047275124.1  protein FAM135A isoform X7

    7. XM_011535995.4 → XP_011534297.1  protein FAM135A isoform X1

      See identical proteins and their annotated locations for XP_011534297.1

      Conserved Domains (2) summary
      pfam05057
      Location:1270 → 1465
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein FAM135

    8. XM_047419162.1 → XP_047275118.1  protein FAM135A isoform X4

    9. XM_047419171.1 → XP_047275127.1  protein FAM135A isoform X8

    10. XM_047419159.1 → XP_047275115.1  protein FAM135A isoform X2

      UniProtKB/Swiss-Prot
      A2RRQ5, Q3C0H3, Q5JXK0, Q5JXK1, Q68DW0, Q6P081, Q9H0F2, Q9NU48, Q9NUQ5, Q9NXL5, Q9P2D6

    11. XM_047419167.1 → XP_047275123.1  protein FAM135A isoform X5

    12. XM_047419180.1 → XP_047275136.1  protein FAM135A isoform X9

      UniProtKB/TrEMBL
      D6RCC7

    13. XM_011535994.3 → XP_011534296.1  protein FAM135A isoform X1

      See identical proteins and their annotated locations for XP_011534296.1

      Conserved Domains (2) summary
      pfam05057
      Location:1270 → 1465
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein FAM135

    14. XM_047419173.1 → XP_047275129.1  protein FAM135A isoform X8

    15. XM_047419166.1 → XP_047275122.1  protein FAM135A isoform X5

    16. XM_047419176.1 → XP_047275132.1  protein FAM135A isoform X9

      UniProtKB/TrEMBL
      D6RCC7

    17. XM_011535996.3 → XP_011534298.1  protein FAM135A isoform X1

      See identical proteins and their annotated locations for XP_011534298.1

      Conserved Domains (2) summary
      pfam05057
      Location:1270 → 1465
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein FAM135

    18. XM_047419163.1 → XP_047275119.1  protein FAM135A isoform X4

    19. XM_047419172.1 → XP_047275128.1  protein FAM135A isoform X8

    20. XM_047419160.1 → XP_047275116.1  protein FAM135A isoform X2

      UniProtKB/Swiss-Prot
      A2RRQ5, Q3C0H3, Q5JXK0, Q5JXK1, Q68DW0, Q6P081, Q9H0F2, Q9NU48, Q9NUQ5, Q9NXL5, Q9P2D6

    21. XM_047419179.1 → XP_047275135.1  protein FAM135A isoform X9

      UniProtKB/TrEMBL
      D6RCC7

    22. XM_047419164.1 → XP_047275120.1  protein FAM135A isoform X4

    23. XM_047419174.1 → XP_047275130.1  protein FAM135A isoform X8

    24. XM_017011127.2 → XP_016866616.1  protein FAM135A isoform X2

      UniProtKB/Swiss-Prot
      A2RRQ5, Q3C0H3, Q5JXK0, Q5JXK1, Q68DW0, Q6P081, Q9H0F2, Q9NU48, Q9NUQ5, Q9NXL5, Q9P2D6
      Related
      ENSP00000423307.1, ENST00000505868.1
      Conserved Domains (2) summary
      pfam05057
      Location:1244 → 1439
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:111 → 171
      DUF3657; Protein FAM135

    25. XM_047419178.1 → XP_047275134.1  protein FAM135A isoform X9

      UniProtKB/TrEMBL
      D6RCC7
      Related
      ENSP00000423785.1, ENST00000505769.5

    26. XM_011535997.3 → XP_011534299.1  protein FAM135A isoform X3

      Conserved Domains (2) summary
      pfam05057
      Location:1237 → 1432
      DUF676; Putative serine esterase (DUF676)
      pfam12394
      Location:78 → 138
      DUF3657; Protein of unknown function (DUF3657)

    27. XM_047419161.1 → XP_047275117.1  protein FAM135A isoform X4

    28. XM_047419170.1 → XP_047275126.1  protein FAM135A isoform X8

    29. XM_047419177.1 → XP_047275133.1  protein FAM135A isoform X9

      UniProtKB/TrEMBL
      D6RCC7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      71594068..71741718
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356070.1 → XP_054212045.1  protein FAM135A isoform X1

    2. XM_054356079.1 → XP_054212054.1  protein FAM135A isoform X4

    3. XM_054356084.1 → XP_054212059.1  protein FAM135A isoform X8

    4. XM_054356090.1 → XP_054212065.1  protein FAM135A isoform X9

    5. XM_054356082.1 → XP_054212057.1  protein FAM135A isoform X6

    6. XM_054356083.1 → XP_054212058.1  protein FAM135A isoform X7

    7. XM_054356069.1 → XP_054212044.1  protein FAM135A isoform X1

    8. XM_054356076.1 → XP_054212051.1  protein FAM135A isoform X4

    9. XM_054356086.1 → XP_054212061.1  protein FAM135A isoform X8

    10. XM_054356071.1 → XP_054212046.1  protein FAM135A isoform X2

    11. XM_054356081.1 → XP_054212056.1  protein FAM135A isoform X5

    12. XM_054356095.1 → XP_054212070.1  protein FAM135A isoform X9

    13. XM_054356067.1 → XP_054212042.1  protein FAM135A isoform X1

    14. XM_054356088.1 → XP_054212063.1  protein FAM135A isoform X8

    15. XM_054356080.1 → XP_054212055.1  protein FAM135A isoform X5

    16. XM_054356091.1 → XP_054212066.1  protein FAM135A isoform X9

    17. XM_054356068.1 → XP_054212043.1  protein FAM135A isoform X1

    18. XM_054356077.1 → XP_054212052.1  protein FAM135A isoform X4

    19. XM_054356087.1 → XP_054212062.1  protein FAM135A isoform X8

    20. XM_054356072.1 → XP_054212047.1  protein FAM135A isoform X2

    21. XM_054356094.1 → XP_054212069.1  protein FAM135A isoform X9

    22. XM_054356078.1 → XP_054212053.1  protein FAM135A isoform X4

    23. XM_054356089.1 → XP_054212064.1  protein FAM135A isoform X8

    24. XM_054356073.1 → XP_054212048.1  protein FAM135A isoform X2

    25. XM_054356093.1 → XP_054212068.1  protein FAM135A isoform X9

    26. XM_054356074.1 → XP_054212049.1  protein FAM135A isoform X3

    27. XM_054356075.1 → XP_054212050.1  protein FAM135A isoform X4

    28. XM_054356085.1 → XP_054212060.1  protein FAM135A isoform X8

    29. XM_054356092.1 → XP_054212067.1  protein FAM135A isoform X9

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2D6.2 GenPept UniProtKB/Swiss-Prot:Q9P2D6

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