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CFAP97D1 CFAP97 domain containing 1 [ Homo sapiens (human) ]

Gene ID: 284067, updated on 13-May-2022

Summary

Official Symbol
CFAP97D1provided by HGNC
Official Full Name
CFAP97 domain containing 1provided by HGNC
Primary source
HGNC:HGNC:37241
See related
Ensembl:ENSG00000231256 MIM:619866; AllianceGenome:HGNC:37241
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
C17orf105
Summary
Predicted to be involved in sperm axoneme assembly. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 11.1) See more
Orthologs
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Genomic context

See CFAP97D1 in Genome Data Viewer
Location:
17q21.31
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43780435..43787620)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44632979..44640164)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41857803..41864988)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene sclerostin Neighboring gene dual specificity phosphatase 3 Neighboring gene Sharpr-MPRA regulatory region 13819 Neighboring gene MAGUK p55 scaffold protein 3 Neighboring gene uncharacterized LOC107984979

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ43829

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in sperm axoneme assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in sperm axoneme assembly ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
sperm axonemal maintenance protein CFAP97D1
Names
CFAP97 domain-containing protein 1
uncharacterized protein C17orf105

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_001136483.3NP_001129955.1  sperm axonemal maintenance protein CFAP97D1 isoform 1

    See identical proteins and their annotated locations for NP_001129955.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the predominant isoform (1).
    Source sequence(s)
    AC003098, BC070324
    Consensus CDS
    CCDS45695.1
    UniProtKB/Swiss-Prot
    B2RV13
    Related
    ENSP00000415662.2, ENST00000449302.8
    Conserved Domains (1) summary
    pfam13879
    Location:35129
    KIAA1430; KIAA1430 homolog
  2. NM_001353400.2NP_001340329.1  sperm axonemal maintenance protein CFAP97D1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a framshift. The resulting isoform (2) has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AC003098
    Conserved Domains (1) summary
    pfam13879
    Location:3599
    KIAA1430; KIAA1430 homolog

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    43780435..43787620
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    44632979..44640164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)