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BLTP3A bridge-like lipid transfer protein family member 3A [ Homo sapiens (human) ]

Gene ID: 54887, updated on 4-Dec-2022

Summary

Official Symbol
BLTP3Aprovided by HGNC
Official Full Name
bridge-like lipid transfer protein family member 3Aprovided by HGNC
Primary source
HGNC:HGNC:21216
See related
Ensembl:ENSG00000065060 MIM:619570; AllianceGenome:HGNC:21216
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
ICBP90; C6orf107; SHIP164A; SHIP164B; UHRF1BP1; dJ349A12.1
Summary
Enables histone deacetylase binding activity and identical protein binding activity. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 8.7), bone marrow (RPKM 5.2) and 25 other tissues See more
Orthologs
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Genomic context

See BLTP3A in Genome Data Viewer
Location:
6p21.31
Exon count:
21
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (34792083..34877514)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (34614874..34700320)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (34759860..34845291)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S10 pseudogene 13 Neighboring gene small nuclear ribonucleoprotein polypeptide C Neighboring gene RNY3 pseudogene 15 Neighboring gene TATA-box binding protein associated factor 11 Neighboring gene ankyrin repeat and sterile alpha motif domain containing 1A Neighboring gene heat shock protein family E (Hsp10) member 1 pseudogene 11 Neighboring gene t-complex 11

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
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
EBI GWAS Catalog
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
EBI GWAS Catalog
Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.
EBI GWAS Catalog
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20302

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone deacetylase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables histone deacetylase binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in late endosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
UHRF1-binding protein 1
Names
ICBP90 binding protein 1
UHRF1 (ICBP90) binding protein 1
UHRF1 binding protein 1
ubiquitin-like containing PHD and RING finger domains 1-binding protein 1

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_017754.4NP_060224.3  UHRF1-binding protein 1

    See identical proteins and their annotated locations for NP_060224.3

    Status: VALIDATED

    Source sequence(s)
    AA287944, AB126777, AL033520, DB636320
    Consensus CDS
    CCDS43455.1
    UniProtKB/Swiss-Prot
    Q6BDS2, Q9NXE0
    Related
    ENSP00000192788.5, ENST00000192788.6
    Conserved Domains (1) summary
    pfam12624
    Location:389
    Chorein_N; N-terminal region of Chorein or VPS13

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    34792083..34877514
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    34614874..34700320
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)