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    NHSL1 NHS like 1 [ Homo sapiens (human) ]

    Gene ID: 57224, updated on 7-Apr-2024

    Summary

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    Official Symbol
    NHSL1provided by HGNC
    Official Full Name
    NHS like 1provided by HGNC
    Primary source
    HGNC:HGNC:21021
    See related
    Ensembl:ENSG00000135540 MIM:620171; AllianceGenome:HGNC:21021
    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
    C6orf63
    Summary
    Predicted to be involved in cell differentiation. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in small intestine (RPKM 4.4), colon (RPKM 3.6) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    6q24.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (138422043..138693212, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (139610527..139881772, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (138743180..138893706, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:138698741-138699245 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:138724054-138724574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17595 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:138725096-138725616 Neighboring gene small integral membrane protein 28 Neighboring gene MARCKS like 1 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:138751321-138751822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:138751823-138752322 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:138762212-138762399 Neighboring gene heme binding protein 2 Neighboring gene microRNA 3145 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:138807227-138807846 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90625 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90641 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr6:138893284-138894040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:138897819-138898319 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:138912362-138912862 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:138912863-138913363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25159 Neighboring gene Sharpr-MPRA regulatory region 8531 Neighboring gene MTCH1 pseudogene 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:139012200-139013399 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17597 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17598 Neighboring gene collagen alpha-1(III) chain Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17599 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17600 Neighboring gene NHSL1 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:139043918-139044568 Neighboring gene CCDC28A antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25160 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:139093957-139094631 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:139094632-139095305 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_90660 Neighboring gene coiled-coil domain containing 28A

    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. Nance-Horan Syndrome-like 1 protein negatively regulates Scar/WAVE-Arp2/3 activity and inhibits lamellipodia stability and cell migration. Law AL, et al. Nat Commun, 2021 Sep 28. PMID 34584076, Free PMC Article
    2. Proteogenomics Integrating Novel Junction Peptide Identification Strategy Discovers Three Novel Protein Isoforms of Human NHSL1 and EEF1B2. He C, et al. J Proteome Res, 2021 Dec 3. PMID 34420305
    3. Identification of the gene for Nance-Horan syndrome (NHS). Brooks SP, et al. J Med Genet, 2004 Oct. PMID 15466011, Free PMC Article
    4. PTPRA Phosphatase Regulates GDNF-Dependent RET Signaling and Inhibits the RET Mutant MEN2A Oncogenic Potential. Yadav L, et al. iScience, 2020 Feb 21. PMID 32062451, Free PMC Article
    5. 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

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Proteogenomics Integrating Novel Junction Peptide Identification Strategy Discovers Three Novel Protein Isoforms of Human NHSL1 and EEF1B2.
      Title: Proteogenomics Integrating Novel Junction Peptide Identification Strategy Discovers Three Novel Protein Isoforms of Human NHSL1 and EEF1B2.
    2. Nance-Horan Syndrome-like 1 protein negatively regulates Scar/WAVE-Arp2/3 activity and inhibits lamellipodia stability and cell migration.
      Title: Nance-Horan Syndrome-like 1 protein negatively regulates Scar/WAVE-Arp2/3 activity and inhibits lamellipodia stability and cell migration.
    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1357

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    NHS-like protein 1

    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.

    mRNA and Protein(s)

    1. NM_001144060.2 → NP_001137532.1  NHS-like protein 1 isoform 2

      See identical proteins and their annotated locations for NP_001137532.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, uses a distinct start codon, and includes an alternate in-frame exon, compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus and includes an alternate segment, compared to isoform 1.
      Source sequence(s)
      AL391669, AL591375
      Consensus CDS
      CCDS47487.1
      UniProtKB/Swiss-Prot
      Q5SYE7
      Related
      ENSP00000344672.5, ENST00000343505.10
      Conserved Domains (1) summary
      pfam15273
      Location:255 → 889
      NHS; NHS-like

    2. NM_020464.2 → NP_065197.1  NHS-like protein 1 isoform 1

      See identical proteins and their annotated locations for NP_065197.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL391669, AL591375
      Consensus CDS
      CCDS55063.1
      UniProtKB/Swiss-Prot
      Q3ZCS5, Q5SYE7, Q5SYE8, Q9P2J0
      Related
      ENSP00000394546.2, ENST00000427025.6
      Conserved Domains (1) summary
      pfam15273
      Location:259 → 893
      NHS; NHS-like

    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
      138422043..138693212 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419113.1 → XP_047275069.1  NHS-like protein 1 isoform X6

    2. XM_047419109.1 → XP_047275065.1  NHS-like protein 1 isoform X2

    3. XM_047419110.1 → XP_047275066.1  NHS-like protein 1 isoform X4

    4. XM_011535976.2 → XP_011534278.2  NHS-like protein 1 isoform X1

    5. XM_047419119.1 → XP_047275075.1  NHS-like protein 1 isoform X21

    6. XM_017011086.3 → XP_016866575.1  NHS-like protein 1 isoform X3

      Conserved Domains (1) summary
      pfam15273
      Location:321 → 955
      NHS; NHS-like

    7. XM_047419115.1 → XP_047275071.1  NHS-like protein 1 isoform X13

      UniProtKB/Swiss-Prot
      Q3ZCS5, Q5SYE7, Q5SYE8, Q9P2J0

    8. XM_047419112.1 → XP_047275068.1  NHS-like protein 1 isoform X5

    9. XM_011535967.4 → XP_011534269.1  NHS-like protein 1 isoform X3

      See identical proteins and their annotated locations for XP_011534269.1

      Conserved Domains (1) summary
      pfam15273
      Location:321 → 955
      NHS; NHS-like

    10. XM_047419111.1 → XP_047275067.1  NHS-like protein 1 isoform X5

    11. XM_011535966.4 → XP_011534268.1  NHS-like protein 1 isoform X3

      See identical proteins and their annotated locations for XP_011534268.1

      Conserved Domains (1) summary
      pfam15273
      Location:321 → 955
      NHS; NHS-like

    12. XM_047419116.1 → XP_047275072.1  NHS-like protein 1 isoform X18

    13. XM_047419114.1 → XP_047275070.1  NHS-like protein 1 isoform X11

    14. XM_017011087.1 → XP_016866576.1  NHS-like protein 1 isoform X7

    15. XM_047419118.1 → XP_047275074.1  NHS-like protein 1 isoform X20

    16. XM_017011089.2 → XP_016866578.1  NHS-like protein 1 isoform X17

    17. XM_011535972.3 → XP_011534274.1  NHS-like protein 1 isoform X14

      Conserved Domains (1) summary
      pfam15273
      Location:259 → 893
      NHS; NHS-like

    18. XM_011535973.3 → XP_011534275.1  NHS-like protein 1 isoform X15

      Conserved Domains (1) summary
      pfam15273
      Location:256 → 890
      NHS; NHS-like

    19. XM_011535969.3 → XP_011534271.1  NHS-like protein 1 isoform X8

      Conserved Domains (1) summary
      pfam15273
      Location:274 → 908
      NHS; NHS-like

    20. XM_047419117.1 → XP_047275073.1  NHS-like protein 1 isoform X19

    21. XM_011535970.3 → XP_011534272.1  NHS-like protein 1 isoform X9

      Conserved Domains (1) summary
      pfam15273
      Location:273 → 907
      NHS; NHS-like

    22. XM_011535974.4 → XP_011534276.1  NHS-like protein 1 isoform X16

      Conserved Domains (1) summary
      pfam15273
      Location:256 → 890
      NHS; NHS-like

    23. XM_011535971.3 → XP_011534273.1  NHS-like protein 1 isoform X12

      Conserved Domains (1) summary
      pfam15273
      Location:267 → 901
      NHS; NHS-like

    24. XM_017011088.2 → XP_016866577.1  NHS-like protein 1 isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      139610527..139881772 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356002.1 → XP_054211977.1  NHS-like protein 1 isoform X6

    2. XM_054355994.1 → XP_054211969.1  NHS-like protein 1 isoform X2

    3. XM_054355999.1 → XP_054211974.1  NHS-like protein 1 isoform X4

    4. XM_054355993.1 → XP_054211968.1  NHS-like protein 1 isoform X1

    5. XM_054355998.1 → XP_054211973.1  NHS-like protein 1 isoform X3

    6. XM_054356007.1 → XP_054211982.1  NHS-like protein 1 isoform X13

      UniProtKB/Swiss-Prot
      Q3ZCS5, Q5SYE7, Q5SYE8, Q9P2J0

    7. XM_054356001.1 → XP_054211976.1  NHS-like protein 1 isoform X5

    8. XM_054355997.1 → XP_054211972.1  NHS-like protein 1 isoform X3

    9. XM_054356000.1 → XP_054211975.1  NHS-like protein 1 isoform X5

    10. XM_054355996.1 → XP_054211971.1  NHS-like protein 1 isoform X3

    11. XM_054355995.1 → XP_054211970.1  NHS-like protein 1 isoform X3

    12. XM_054356014.1 → XP_054211989.1  NHS-like protein 1 isoform X18

    13. XM_054356006.1 → XP_054211981.1  NHS-like protein 1 isoform X11

    14. XM_054356003.1 → XP_054211978.1  NHS-like protein 1 isoform X7

    15. XM_054356008.1 → XP_054211983.1  NHS-like protein 1 isoform X14

    16. XM_054356013.1 → XP_054211988.1  NHS-like protein 1 isoform X17

    17. XM_054356016.1 → XP_054211991.1  NHS-like protein 1 isoform X20

    18. XM_054356004.1 → XP_054211979.1  NHS-like protein 1 isoform X8

    19. XM_054356009.1 → XP_054211984.1  NHS-like protein 1 isoform X15

    20. XM_054356015.1 → XP_054211990.1  NHS-like protein 1 isoform X19

    21. XM_054356005.1 → XP_054211980.1  NHS-like protein 1 isoform X9

    22. XM_054356010.1 → XP_054211985.1  NHS-like protein 1 isoform X16

    23. XM_054356012.1 → XP_054211987.1  NHS-like protein 1 isoform X22

    24. XM_054356011.1 → XP_054211986.1  NHS-like protein 1 isoform X22

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SYE7.2 GenPept UniProtKB/Swiss-Prot:Q5SYE7

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