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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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See DNAI7 in Genome Data Viewer
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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