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    DNAI7 dynein axonemal intermediate chain 7 [ Homo sapiens (human) ]

    Gene ID: 55259, updated on 7-Apr-2024

    Summary

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    Official Symbol
    DNAI7provided by HGNC
    Official Full Name
    dynein axonemal intermediate chain 7provided by HGNC
    Primary source
    HGNC:HGNC:29599
    See related
    Ensembl:ENSG00000118307 MIM:616906; AllianceGenome:HGNC:29599
    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
    LAS1; CASC1; CFAP94; PPP1R54
    Summary
    Predicted to enable beta-tubulin binding activity and microtubule binding activity. Predicted to be located in cilium; cytoplasm; and microtubule cytoskeleton. Predicted to be part of axonemal dynein complex. Predicted to be active in axoneme. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in lymph node (RPKM 12.5), testis (RPKM 9.5) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    12p12.1
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (25107047..25195160, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (24977958..25066403, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (25261223..25348094, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6112 Neighboring gene long intergenic non-protein coding RNA 2909 Neighboring gene inositol 1,4,5-triphosphate receptor associated 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6114 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26648 Neighboring gene centromere protein U pseudogene 2 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_26664 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:25288649-25289148 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:25321883-25322516 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:25323195-25323341 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6115 Neighboring gene uncharacterized LOC124902899 Neighboring gene electron transfer flavoprotein regulatory factor 1 Neighboring gene KRAS proto-oncogene, GTPase

    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. A V141L polymorphism of the human LRMP gene is associated with survival of lung cancer patients. Manenti G, et al. Carcinogenesis, 2006 Jul. PMID 16410263
    2. Association of KRAS polymorphisms with risk for lung adenocarcinoma accompanied by atypical adenomatous hyperplasias. Kohno T, et al. Carcinogenesis, 2008 May. PMID 18299280
    3. Genome-wide association analysis identifies multiple loci related to resting heart rate. Eijgelsheim M, et al. Hum Mol Genet, 2010 Oct 1. PMID 20639392, Free PMC Article
    4. Docking motif-guided mapping of the interactome of protein phosphatase-1. Hendrickx A, et al. Chem Biol, 2009 Apr 24. PMID 19389623
    5. A large-scale candidate gene association study of age at menarche and age at natural menopause. He C, et al. Hum Genet, 2010 Nov. PMID 20734064, Free PMC Article

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide association analysis identifies multiple loci related to resting heart rate.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: A large-scale candidate gene association study of age at menarche and age at natural menopause.
    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

    • FLJ10921

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-tubulin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables beta-tubulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of axonemal dynein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    dynein axonemal intermediate chain 7
    Names
    cancer susceptibility 1
    cancer susceptibility candidate 1
    cancer susceptibility candidate gene 1 protein
    cilia and flagella associated protein 94
    dynein intermediate chain CFAP94, axonemal
    lung adenoma susceptibility 1-like protein
    protein CASC1
    protein phosphatase 1 regulatory subunit 54

    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_001082972.3 → NP_001076441.1  dynein axonemal intermediate chain 7 isoform c

      See identical proteins and their annotated locations for NP_001076441.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' region and in the 3' region, compared to variant 1. It initiates translation at an alternate start codon. The resulting isoform (c) has a longer N-terminus and a shorter, distinct C-terminus, as compared to isoform a.
      Source sequence(s)
      AK304602, BC028415, BC047415
      Consensus CDS
      CCDS41763.1
      UniProtKB/Swiss-Prot
      Q6TDU7
      UniProtKB/TrEMBL
      B4E376
      Related
      ENSP00000346126.5, ENST00000354189.9
      Conserved Domains (2) summary
      pfam12366
      Location:303 → 518
      Casc1; Cancer susceptibility candidate 1
      pfam15927
      Location:98 → 288
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    2. NM_001082973.3 → NP_001076442.2  dynein axonemal intermediate chain 7 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, as compared to variant 1. The resulting isoform (b) is shorter at the N-terminus, as compared to isoform a.
      Source sequence(s)
      AC023510, AC092794
      Consensus CDS
      CCDS41762.1
      UniProtKB/Swiss-Prot
      B4DNP2, F5H6T6, Q17RL2, Q4G171, Q5U5K5, Q6TDU7, Q9NV50
      Related
      ENSP00000313141.9, ENST00000320267.13
      Conserved Domains (2) summary
      pfam12366
      Location:463 → 662
      Casc1; Cancer susceptibility candidate 1
      pfam15927
      Location:34 → 224
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    3. NM_001204101.3 → NP_001191030.2  dynein axonemal intermediate chain 7 isoform e

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks three alternate exons in the 5' region, but maintains the reading frame, as compared to variant 1. The resulting isoform (e) is shorter, as compared to isoform a.
      Source sequence(s)
      AC023510, AC092794
      Consensus CDS
      CCDS55811.1
      UniProtKB/TrEMBL
      A0A6Q8PG26
      Related
      ENSP00000437373.1, ENST00000545133.5
      Conserved Domains (2) summary
      pfam12366
      Location:404 → 603
      Casc1; Cancer susceptibility candidate 1
      pfam15927
      Location:18 → 165
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    4. NM_001204102.3 → NP_001191031.2  dynein axonemal intermediate chain 7 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) contains an alternate exon in the 5' region and initiates translation at a downstream start codon, as compared to variant 1. The resulting isoform (d) is shorter at the N-terminus, as compared to isoform a. Variants 4, 7, and 8 all encode the same isoform (d).
      Source sequence(s)
      AC023510, AC092794
      Consensus CDS
      CCDS55810.1
      UniProtKB/TrEMBL
      A0A6Q8PG26
      Related
      ENSP00000379313.2, ENST00000395990.6
      Conserved Domains (2) summary
      pfam12366
      Location:423 → 622
      Casc1; Cancer susceptibility candidate 1
      pfam15927
      Location:1 → 184
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    5. NM_001319977.2 → NP_001306906.1  dynein axonemal intermediate chain 7 isoform f

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks two alternate exons in the 5' region, initiates translation at a downstream start codon, and uses an alternate splice site in the 3' region, compared to variant 1. The resulting isoform (f) has a shorter N-terminus and a shorter, distinct C-terminus, as compared to isoform a.
      Source sequence(s)
      AK304602, BC047415
      UniProtKB/TrEMBL
      B4E376
      Conserved Domains (2) summary
      pfam12366
      Location:127 → 342
      Casc1; Cancer susceptibility candidate 1
      pfam15927
      Location:1 → 112
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    6. NM_001319978.2 → NP_001306907.2  dynein axonemal intermediate chain 7 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) lacks an exon and uses an alternate splice site in the 5' region, and initiates translation at a downstream start codon, as compared to variant 1. The resulting isoform (d) has a shorter N-terminus, as compared to isoform a. Variants 4, 7, and 8 all encode the same isoform (d).
      Source sequence(s)
      AC023510, AC092794
      Consensus CDS
      CCDS55810.1
      UniProtKB/TrEMBL
      A0A6Q8PG26
      Conserved Domains (2) summary
      pfam12366
      Location:423 → 622
      Casc1; Cancer susceptibility candidate 1
      pfam15927
      Location:1 → 184
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    7. NM_001352061.2 → NP_001338990.2  dynein axonemal intermediate chain 7 isoform d

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8), as well as variants 4 and 7, encodes isoform d.
      Source sequence(s)
      AC023510, AC092794
      Consensus CDS
      CCDS55810.1
      UniProtKB/TrEMBL
      A0A6Q8PG26
      Conserved Domains (2) summary
      pfam12366
      Location:423 → 622
      Casc1; Cancer susceptibility candidate 1
      pfam15927
      Location:1 → 184
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    8. NM_001352062.2 → NP_001338991.1  dynein axonemal intermediate chain 7 isoform g

      Status: VALIDATED

      Source sequence(s)
      AC023510, AC092794
      UniProtKB/TrEMBL
      B4E376
      Conserved Domains (1) summary
      pfam15927
      Location:34 → 224
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    9. NM_001352063.2 → NP_001338992.2  dynein axonemal intermediate chain 7 isoform h

      Status: VALIDATED

      Source sequence(s)
      AC023510, AC092794
      UniProtKB/TrEMBL
      A0A6Q8PG26
      Conserved Domains (2) summary
      pfam12366
      Location:363 → 562
      Casc1; Cancer susceptibility candidate 1
      pfam15927
      Location:40 → 230
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    10. NM_001352064.2 → NP_001338993.2  dynein axonemal intermediate chain 7 isoform i

      Status: VALIDATED

      Source sequence(s)
      AC023510, AC092794
      UniProtKB/TrEMBL
      A0A6Q8PG26
      Related
      ENSP00000501714.1, ENST00000676236.1
      Conserved Domains (2) summary
      pfam12366
      Location:357 → 556
      Casc1; Cancer susceptibility candidate 1
      pfam15927
      Location:34 → 224
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    11. NM_001352065.2 → NP_001338994.2  dynein axonemal intermediate chain 7 isoform j

      Status: VALIDATED

      Source sequence(s)
      AC023510, AC092794
      UniProtKB/TrEMBL
      B4E376
      Conserved Domains (2) summary
      pfam12366
      Location:351 → 550
      Casc1; Cancer susceptibility candidate 1
      pfam15927
      Location:1 → 112
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    12. NM_001352066.2 → NP_001338995.2  dynein axonemal intermediate chain 7 isoform k

      Status: VALIDATED

      Source sequence(s)
      AC023510, AC092794
      UniProtKB/TrEMBL
      A0A6Q8PG26
      Conserved Domains (2) summary
      pfam12366
      Location:317 → 516
      Casc1; Cancer susceptibility candidate 1
      pfam15927
      Location:1 → 184
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    13. NM_001352067.2 → NP_001338996.2  dynein axonemal intermediate chain 7 isoform l

      Status: VALIDATED

      Source sequence(s)
      AC023510, AC092794
      UniProtKB/TrEMBL
      A0A6Q8PG26
      Related
      ENSP00000502075.1, ENST00000674567.1
      Conserved Domains (2) summary
      pfam12366
      Location:298 → 497
      Casc1; Cancer susceptibility candidate 1
      pfam15927
      Location:18 → 165
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    14. NM_001352068.2 → NP_001338997.1  dynein axonemal intermediate chain 7 isoform m

      Status: VALIDATED

      Source sequence(s)
      AC023510, AC092794
      UniProtKB/TrEMBL
      A0A6Q8PG26
      Conserved Domains (1) summary
      pfam15927
      Location:2 → 184
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    15. NM_018272.5 → NP_060742.4  dynein axonemal intermediate chain 7 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (a).
      Source sequence(s)
      AC023510, AC092794
      Consensus CDS
      CCDS31759.2
      UniProtKB/TrEMBL
      F8W8F9
      Related
      ENSP00000379310.3, ENST00000395987.8
      Conserved Domains (1) summary
      pfam15927
      Location:40 → 230
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    RNA

    1. NR_147909.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC023510, AC092794

    2. NR_147910.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC023510, AC092794

    3. NR_147911.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC023510, AC092794
      Related
      ENST00000554533.5

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      25107047..25195160 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520723.2 → XP_011519025.1  dynein axonemal intermediate chain 7 isoform X1

      See identical proteins and their annotated locations for XP_011519025.1

      Conserved Domains (2) summary
      pfam12366
      Location:303 → 518
      Casc1; Cancer susceptibility candidate 1
      pfam15927
      Location:98 → 288
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    2. XM_047429075.1 → XP_047285031.1  dynein axonemal intermediate chain 7 isoform X5

    3. XM_047429074.1 → XP_047285030.1  dynein axonemal intermediate chain 7 isoform X3

    4. XM_047429077.1 → XP_047285033.1  dynein axonemal intermediate chain 7 isoform X10

    5. XM_017019560.2 → XP_016875049.1  dynein axonemal intermediate chain 7 isoform X2

    6. XM_017019565.2 → XP_016875054.1  dynein axonemal intermediate chain 7 isoform X6

      UniProtKB/TrEMBL
      A0A6Q8PG26

    7. XM_006719101.2 → XP_006719164.1  dynein axonemal intermediate chain 7 isoform X4

      UniProtKB/TrEMBL
      A0A6Q8PG26
      Conserved Domains (2) summary
      pfam12366
      Location:303 → 417
      Casc1; Cancer susceptibility candidate 1
      pfam15927
      Location:98 → 288
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    8. XM_005253406.2 → XP_005253463.1  dynein axonemal intermediate chain 7 isoform X1

      See identical proteins and their annotated locations for XP_005253463.1

      Conserved Domains (2) summary
      pfam12366
      Location:303 → 518
      Casc1; Cancer susceptibility candidate 1
      pfam15927
      Location:98 → 288
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    9. XM_047429078.1 → XP_047285034.1  dynein axonemal intermediate chain 7 isoform X11

      UniProtKB/TrEMBL
      B4DY27
      Related
      ENSP00000501814.1, ENST00000557684.6

    10. XM_047429076.1 → XP_047285032.1  dynein axonemal intermediate chain 7 isoform X9

    11. XM_011520726.2 → XP_011519028.1  dynein axonemal intermediate chain 7 isoform X7

      UniProtKB/TrEMBL
      B3KS92
      Conserved Domains (2) summary
      pfam12366
      Location:303 → 518
      Casc1; Cancer susceptibility candidate 1
      pfam15927
      Location:98 → 288
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    12. XM_011520727.2 → XP_011519029.1  dynein axonemal intermediate chain 7 isoform X8

      UniProtKB/TrEMBL
      B3KS92
      Conserved Domains (2) summary
      pfam12366
      Location:303 → 518
      Casc1; Cancer susceptibility candidate 1
      pfam15927
      Location:98 → 288
      Casc1_N; Cancer susceptibility candidate 1 N-terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      24977958..25066403 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372412.1 → XP_054228387.1  dynein axonemal intermediate chain 7 isoform X1

    2. XM_054372416.1 → XP_054228391.1  dynein axonemal intermediate chain 7 isoform X5

    3. XM_054372414.1 → XP_054228389.1  dynein axonemal intermediate chain 7 isoform X3

    4. XM_054372421.1 → XP_054228396.1  dynein axonemal intermediate chain 7 isoform X10

    5. XM_054372413.1 → XP_054228388.1  dynein axonemal intermediate chain 7 isoform X2

    6. XM_054372417.1 → XP_054228392.1  dynein axonemal intermediate chain 7 isoform X6

    7. XM_054372415.1 → XP_054228390.1  dynein axonemal intermediate chain 7 isoform X4

    8. XM_054372411.1 → XP_054228386.1  dynein axonemal intermediate chain 7 isoform X1

    9. XM_054372422.1 → XP_054228397.1  dynein axonemal intermediate chain 7 isoform X11

      UniProtKB/TrEMBL
      B4DY27

    10. XM_054372420.1 → XP_054228395.1  dynein axonemal intermediate chain 7 isoform X9

    11. XM_054372418.1 → XP_054228393.1  dynein axonemal intermediate chain 7 isoform X7

    12. XM_054372419.1 → XP_054228394.1  dynein axonemal intermediate chain 7 isoform X8

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6TDU7.2 GenPept UniProtKB/Swiss-Prot:Q6TDU7

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