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CFAP77 cilia and flagella associated protein 77 [ Homo sapiens (human) ]

Gene ID: 389799, updated on 5-Aug-2022

Summary

Official Symbol
CFAP77provided by HGNC
Official Full Name
cilia and flagella associated protein 77provided by HGNC
Primary source
HGNC:HGNC:33776
See related
Ensembl:ENSG00000188523 AllianceGenome:HGNC:33776
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
C9orf171
Summary
Predicted to be located in cilium. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 4.9) See more
Orthologs
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Genomic context

See CFAP77 in Genome Data Viewer
Location:
9q34.13
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (132410211..132573319)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (144624655..144784525)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (135285598..135448706)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6614 Neighboring gene uncharacterized LOC124902292 Neighboring gene transcription termination factor 1 Neighboring gene uncharacterized LOC105376304 Neighboring gene Sharpr-MPRA regulatory region 9749 Neighboring gene RNA, U5D small nuclear 2, pseudogene Neighboring gene uncharacterized LOC124902293 Neighboring gene BarH like homeobox 1 Neighboring gene DEAD-box helicase 31

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ46082, MGC148067

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in cilium IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
cilia- and flagella-associated protein 77

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_001282957.2NP_001269886.1  cilia- and flagella-associated protein 77 isoform 2

    See identical proteins and their annotated locations for NP_001269886.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL354735, BC118593, HY017665
    Consensus CDS
    CCDS65167.1
    UniProtKB/Swiss-Prot
    Q6ZQR2
    Related
    ENSP00000376909.2, ENST00000393216.3
    Conserved Domains (1) summary
    pfam14825
    Location:54204
    DUF4483; Domain of unknown function (DUF4483)
  2. NM_207417.3NP_997300.1  cilia- and flagella-associated protein 77 isoform 1

    See identical proteins and their annotated locations for NP_997300.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK128819, AL353701, AL354735
    Consensus CDS
    CCDS6949.1
    UniProtKB/Swiss-Prot
    Q147X1, Q6ZQR2
    Related
    ENSP00000343290.2, ENST00000343036.6
    Conserved Domains (1) summary
    pfam14825
    Location:54240
    DUF4483; Domain of unknown function (DUF4483)

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    132410211..132573319
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011518670.3XP_011516972.1  cilia- and flagella-associated protein 77 isoform X1

    Conserved Domains (1) summary
    pfam14825
    Location:54204
    DUF4483; Domain of unknown function (DUF4483)
  2. XM_017014711.2XP_016870200.1  cilia- and flagella-associated protein 77 isoform X3

  3. XM_011518671.2XP_011516973.1  cilia- and flagella-associated protein 77 isoform X2

    UniProtKB/TrEMBL
    A2A393
    Related
    ENSP00000376908.3, ENST00000393215.7
    Conserved Domains (1) summary
    pfam14825
    Location:54175
    DUF4483; Domain of unknown function (DUF4483)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    144624655..144784525
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)