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ITPRID1 ITPR interacting domain containing 1 [ Homo sapiens (human) ]

Gene ID: 223075, updated on 13-Feb-2019

Summary

Official Symbol
ITPRID1provided by HGNC
Official Full Name
ITPR interacting domain containing 1provided by HGNC
Primary source
HGNC:HGNC:27363
See related
Ensembl:ENSG00000180347
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
CCDC129
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See ITPRID1 in Genome Data Viewer
Location:
7p14.3
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (31514071..31658720)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (31553685..31698334)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs297 Neighboring gene uncharacterized LOC105375224 Neighboring gene phosphodiesterase 1C Neighboring gene protein phosphatase 1 regulatory subunit 17 Neighboring gene sorting nexin 2 pseudogene 2

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

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.
NHGRI GWA Catalog

General gene information

Markers

Homology

Clone Names

  • FLJ38344

Gene Ontology Provided by GOA

Function Evidence Code Pubs
signaling receptor binding IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein ITPRID1; coiled-coil domain-containing protein 129
Names
ITPR-interacting domain-containing protein 1
coiled-coil domain containing 129

NCBI Reference Sequences (RefSeq)

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_051956.1 RefSeqGene

    Range
    35926..147432
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001257967.2NP_001244896.1  protein ITPRID1 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC006044, AK128026, AK304387, BC132719, DB348644
    Consensus CDS
    CCDS75577.1
    UniProtKB/Swiss-Prot
    Q6ZRS4
    UniProtKB/TrEMBL
    A0A087WUB1
    Related
    ENSP00000478518.1, ENST00000615280.4
    Conserved Domains (3) summary
    pfam14722
    Location:124266
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:862947
    SSFA2_C; Sperm-specific antigen 2 C-terminus
    pfam15984
    Location:694794
    Collagen_mid; Bacterial collagen, middle region
  2. NM_001257968.2NP_001244897.1  protein ITPRID1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' and 3' UTRs and has multiple coding difference, including use of an alternate translation initiation site, compared to variant 1. The encoded isoform (3) contains a distinct N- and C-terminus.
    Source sequence(s)
    AC006044, AK295011, DA104138
    Consensus CDS
    CCDS59050.1
    UniProtKB/Swiss-Prot
    Q6ZRS4
    Related
    ENSP00000395835.2, ENST00000451887.6
    Conserved Domains (3) summary
    pfam14722
    Location:140282
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:878963
    SSFA2_C; Sperm-specific antigen 2 C-terminus
    pfam15984
    Location:710810
    Collagen_mid; Bacterial collagen, middle region
  3. NM_194300.4NP_919276.2  protein ITPRID1 isoform 2

    See identical proteins and their annotated locations for NP_919276.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AC006044, AK128026, BC132719, DB348644
    Consensus CDS
    CCDS5435.2
    UniProtKB/Swiss-Prot
    Q6ZRS4
    Conserved Domains (3) summary
    pfam14722
    Location:114256
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:852937
    SSFA2_C; Sperm-specific antigen 2 C-terminus
    pfam15984
    Location:684784
    Collagen_mid; Bacterial collagen, middle region

RNA

  1. NR_047565.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD)
    Source sequence(s)
    AC005090, AC006044, AK128026, BC132719, DB348644

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    31514071..31658720
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515213.2XP_011513515.1  coiled-coil domain-containing protein 129 isoform X1

    See identical proteins and their annotated locations for XP_011513515.1

    UniProtKB/Swiss-Prot
    Q6ZRS4
    Conserved Domains (3) summary
    pfam14722
    Location:114256
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:852937
    SSFA2_C; Sperm-specific antigen 2 C-terminus
    pfam15984
    Location:684784
    Collagen_mid; Bacterial collagen, middle region
  2. XM_017011872.2XP_016867361.1  coiled-coil domain-containing protein 129 isoform X2

  3. XM_017011871.2XP_016867360.1  coiled-coil domain-containing protein 129 isoform X1

    UniProtKB/Swiss-Prot
    Q6ZRS4
    Related
    ENSP00000384416.3, ENST00000407970.7
    Conserved Domains (3) summary
    pfam14722
    Location:114256
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:852937
    SSFA2_C; Sperm-specific antigen 2 C-terminus
    pfam15984
    Location:684784
    Collagen_mid; Bacterial collagen, middle region
  4. XM_024446692.1XP_024302460.1  coiled-coil domain-containing protein 129 isoform X3

    Related
    ENSP00000387214.1, ENST00000409210.1
    Conserved Domains (2) summary
    pfam14722
    Location:22164
    KRAP_IP3R_bind; Ki-ras-induced actin-interacting protein-IP3R-interacting domain
    pfam14723
    Location:754839
    SSFA2_C; Sperm-specific antigen 2 C-terminus
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