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CFAP119 cilia and flagella associated protein 119 [ Homo sapiens (human) ]

Gene ID: 90835, updated on 5-Aug-2022

Summary

Official Symbol
CFAP119provided by HGNC
Official Full Name
cilia and flagella associated protein 119provided by HGNC
Primary source
HGNC:HGNC:28078
See related
Ensembl:ENSG00000196118 MIM:618318; AllianceGenome:HGNC:28078
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
CCDC189; C16orf93
Expression
Broad expression in testis (RPKM 10.9), bone marrow (RPKM 5.2) and 24 other tissues See more
Orthologs
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Genomic context

See CFAP119 in Genome Data Viewer
Location:
16p11.2
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (30757423..30762062, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (31144844..31149483, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (30768744..30773383, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene Snf2 related CREBBP activator protein Neighboring gene small nucleolar RNA, H/ACA box 30 Neighboring gene transmembrane protein 265 Neighboring gene phosphorylase kinase catalytic subunit gamma 2 Neighboring gene ring finger protein 40 Neighboring gene zinc finger protein 629 Neighboring gene uncharacterized LOC124903679 Neighboring gene chromosome 20 open reading frame 27 pseudogene

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

  • MGC104706

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in acrosomal vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in sperm principal piece ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
cilia- and flagella-associated protein 119
Names
coiled-coil domain containing 189
coiled-coil domain-containing protein 189

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_001014979.3NP_001014979.2  cilia- and flagella-associated protein 119 isoform 1

    See identical proteins and their annotated locations for NP_001014979.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    BC063391, BC092491, BC128129
    Consensus CDS
    CCDS32434.2
    UniProtKB/Swiss-Prot
    A1A4V9, Q569G2
    Related
    ENSP00000437532.1, ENST00000543610.6
    Conserved Domains (1) summary
    pfam14769
    Location:126220
    CLAMP; Flagellar C1a complex subunit C1a-32
  2. NM_001195620.2NP_001182549.1  cilia- and flagella-associated protein 119 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks several exons in the coding region and uses an alternate 3' terminal exon, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC073881
    Consensus CDS
    CCDS55993.1
    UniProtKB/Swiss-Prot
    A1A4V9
    Related
    ENSP00000441164.1, ENST00000545825.1
    Conserved Domains (1) summary
    pfam14769
    Location:126159
    CLAMP; Flagellar C1a complex subunit C1a-32

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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    30757423..30762062 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047434863.1XP_047290819.1  cilia- and flagella-associated protein 119 isoform X5

  2. XM_017023855.3XP_016879344.1  cilia- and flagella-associated protein 119 isoform X2

  3. XM_017023852.3XP_016879341.1  cilia- and flagella-associated protein 119 isoform X1

    UniProtKB/TrEMBL
    H3BTQ9
    Related
    ENSP00000457287.1, ENST00000541260.5
  4. XM_017023856.3XP_016879345.1  cilia- and flagella-associated protein 119 isoform X3

  5. XM_047434865.1XP_047290821.1  cilia- and flagella-associated protein 119 isoform X7

  6. XM_047434864.1XP_047290820.1  cilia- and flagella-associated protein 119 isoform X6

  7. XM_047434862.1XP_047290818.1  cilia- and flagella-associated protein 119 isoform X4

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    31144844..31149483 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)