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CFAP65 cilia and flagella associated protein 65 [ Homo sapiens (human) ]

Gene ID: 255101, updated on 26-Nov-2021

Summary

Official Symbol
CFAP65provided by HGNC
Official Full Name
cilia and flagella associated protein 65provided by HGNC
Primary source
HGNC:HGNC:25325
See related
Ensembl:ENSG00000181378 MIM:614270
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SPGF40; CCDC108
Summary
The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. The chicken ortholog of this gene is involved in the Rose-comb mutation, which is a large chromosome inversion, resulting in altered comb morphology and defects in sperm motility. [provided by RefSeq, Aug 2016]
Expression
Biased expression in testis (RPKM 3.3) and lung (RPKM 1.0) See more
Orthologs
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Genomic context

See CFAP65 in Genome Data Viewer
Location:
2q35
Exon count:
36
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (219002846..219043142, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (219867568..219906273, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4963 Neighboring gene uncharacterized LOC100129175 Neighboring gene microRNA 375 Neighboring gene uncharacterized LOC107985987 Neighboring gene Indian hedgehog signaling molecule Neighboring gene microRNA 3131

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC35338, DKFZp434O0527

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sperm axoneme assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in acrosomal membrane IEA
Inferred from Electronic Annotation
more info
 
located_in acrosomal vesicle IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 
located_in sperm flagellum IDA
Inferred from Direct Assay
more info
PubMed 
located_in sperm midpiece IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
cilia- and flagella-associated protein 65
Names
coiled-coil domain containing 108

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.

Genomic

  1. NG_051336.1 RefSeqGene

    Range
    5036..43706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278295.1NP_001265224.1  cilia- and flagella-associated protein 65 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains multiple differences in the UTRs and coding region, including the lack of multiple 3' coding exons, compared to variant 1. It initiates translation at an alternate upstream start codon. The encoded isoform (3) is shorter than isoform 1 and has distinct N- and C-termini.
    Source sequence(s)
    AK302688, BC047637, DB070903, HY027454
    Consensus CDS
    CCDS63126.1
    UniProtKB/TrEMBL
    B4DZ05, Q49A14
    Related
    ENSP00000386945.3, ENST00000409865.7
    Conserved Domains (1) summary
    cl13764
    Location:354420
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
  2. NM_001278296.2NP_001265225.1  cilia- and flagella-associated protein 65 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains multiple differences in the UTRs and coding region, including the lack of multiple 3' coding exons, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (4) is shorter than isoform 1 and has a shorter N-terminus and a distinct C-terminus.
    Source sequence(s)
    AK302678, BC047637, DB070903
    Consensus CDS
    CCDS63125.1
    UniProtKB/TrEMBL
    B4DYZ8, Q49A14
    Related
    ENSP00000386258.1, ENST00000410037.5
    Conserved Domains (1) summary
    cl13764
    Location:300366
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
  3. NM_152389.4NP_689602.2  cilia- and flagella-associated protein 65 isoform 2

    See identical proteins and their annotated locations for NP_689602.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains multiple differences in the UTRs and coding region, including the lack of multiple 3' coding exons, compared to variant 1. It initiates translation at a downstream in-frame start codon. The encoded isoform (2) is shorter than isoform 1 and has a shorter N-terminus and a distinct C-terminus.
    Source sequence(s)
    AC097468, AK302678, BC031585, DB070903
    Consensus CDS
    CCDS2431.2
    UniProtKB/Swiss-Prot
    Q6ZU64
    UniProtKB/TrEMBL
    B4DYZ8
    Related
    ENSP00000295729.2, ENST00000295729.6
  4. NM_194302.4NP_919278.2  cilia- and flagella-associated protein 65 isoform 1

    See identical proteins and their annotated locations for NP_919278.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA503417, AK127189, AK302688, BC130281, DB070903
    Consensus CDS
    CCDS2430.2
    UniProtKB/Swiss-Prot
    Q6ZU64
    UniProtKB/TrEMBL
    B4DZ05
    Related
    ENSP00000340776.5, ENST00000341552.10
    Conserved Domains (1) summary
    cl13764
    Location:365431
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    219002846..219043142 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003753.1XP_016859242.1  cilia- and flagella-associated protein 65 isoform X3

  2. XM_017003755.1XP_016859244.1  cilia- and flagella-associated protein 65 isoform X5

    Conserved Domains (1) summary
    cl13764
    Location:300366
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
  3. XM_011510904.2XP_011509206.1  cilia- and flagella-associated protein 65 isoform X1

    See identical proteins and their annotated locations for XP_011509206.1

    Conserved Domains (1) summary
    cl13764
    Location:366432
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
  4. XM_011510915.1XP_011509217.1  cilia- and flagella-associated protein 65 isoform X5

    See identical proteins and their annotated locations for XP_011509217.1

    Conserved Domains (1) summary
    cl13764
    Location:300366
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
  5. XM_011510908.1XP_011509210.1  cilia- and flagella-associated protein 65 isoform X2

    See identical proteins and their annotated locations for XP_011509210.1

    Conserved Domains (1) summary
    cl13764
    Location:365431
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
  6. XM_011510911.1XP_011509213.1  cilia- and flagella-associated protein 65 isoform X5

    See identical proteins and their annotated locations for XP_011509213.1

    Conserved Domains (1) summary
    cl13764
    Location:300366
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
  7. XM_011510914.1XP_011509216.1  cilia- and flagella-associated protein 65 isoform X5

    See identical proteins and their annotated locations for XP_011509216.1

    Conserved Domains (1) summary
    cl13764
    Location:300366
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
  8. XM_011510909.1XP_011509211.1  cilia- and flagella-associated protein 65 isoform X2

    See identical proteins and their annotated locations for XP_011509211.1

    Conserved Domains (1) summary
    cl13764
    Location:365431
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
  9. XM_017003752.1XP_016859241.1  cilia- and flagella-associated protein 65 isoform X2

    Conserved Domains (1) summary
    cl13764
    Location:365431
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
  10. XM_017003754.1XP_016859243.1  cilia- and flagella-associated protein 65 isoform X5

    Conserved Domains (1) summary
    cl13764
    Location:300366
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
  11. XM_011510912.1XP_011509214.1  cilia- and flagella-associated protein 65 isoform X5

    See identical proteins and their annotated locations for XP_011509214.1

    Conserved Domains (1) summary
    cl13764
    Location:300366
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
  12. XM_011510916.1XP_011509218.1  cilia- and flagella-associated protein 65 isoform X6

    Conserved Domains (1) summary
    cl13764
    Location:273339
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
  13. XM_011510910.1XP_011509212.1  cilia- and flagella-associated protein 65 isoform X4

    Conserved Domains (1) summary
    cl13764
    Location:366432
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
  14. XM_011510903.1XP_011509205.1  cilia- and flagella-associated protein 65 isoform X1

    See identical proteins and their annotated locations for XP_011509205.1

    Conserved Domains (1) summary
    cl13764
    Location:366432
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
  15. XM_011510921.1XP_011509223.1  cilia- and flagella-associated protein 65 isoform X8

  16. XM_011510919.1XP_011509221.1  cilia- and flagella-associated protein 65 isoform X7

    Conserved Domains (1) summary
    cl13764
    Location:366432
    ASH; Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
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