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HHIPL1 HHIP like 1 [ Homo sapiens (human) ]

Gene ID: 84439, updated on 22-Aug-2020

Summary

Official Symbol
HHIPL1provided by HGNC
Official Full Name
HHIP like 1provided by HGNC
Primary source
HGNC:HGNC:19710
See related
Ensembl:ENSG00000182218
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
UNQ9245; KIAA1822
Summary
This gene encodes a protein that belongs to the glucose/sorbosone dehydrogenase family. The encoded protein also contains a domain that binds folate and reduced folic acid derivatives. [provided by RefSeq, Jul 2016]
Expression
Broad expression in brain (RPKM 2.0), gall bladder (RPKM 0.6) and 20 other tissues See more
Orthologs

Genomic context

See HHIPL1 in Genome Data Viewer
Location:
14q32.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (99604476..99680569)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (100111480..100143011)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene coiled-coil domain containing 85C Neighboring gene HNF4 motif-containing MPRA enhancer 184 Neighboring gene VISTA enhancer hs1931 Neighboring gene Sharpr-MPRA regulatory region 4550 Neighboring gene cytochrome P450 family 46 subfamily A member 1 Neighboring gene EMAP like 1 Neighboring gene uncharacterized LOC102724682

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

Associated conditions

Description Tests
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • KIAA1822

Gene Ontology Provided by GOA

Function Evidence Code Pubs
catalytic activity IEA
Inferred from Electronic Annotation
more info
 
molecular_function ND
No biological Data available
more info
 
scavenger receptor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
endocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
extracellular region IEA
Inferred from Electronic Annotation
more info
 
membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
HHIP-like protein 1
Names
ARAR9245

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_051108.1 RefSeqGene

    Range
    5063..70863
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001127258.3NP_001120730.1  HHIP-like protein 1 isoform a precursor

    See identical proteins and their annotated locations for NP_001120730.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AB593096, AL160313
    Consensus CDS
    CCDS45162.1
    UniProtKB/Swiss-Prot
    Q96JK4
    UniProtKB/TrEMBL
    F1T0G3
    Related
    ENSP00000330601.5, ENST00000330710.9
    Conserved Domains (4) summary
    smart00202
    Location:673776
    SR; Scavenger receptor Cys-rich
    pfam00530
    Location:680776
    SRCR; Scavenger receptor cysteine-rich domain
    pfam03024
    Location:22183
    Folate_rec; Folate receptor family
    pfam07995
    Location:193439
    GSDH; Glucose / Sorbosone dehydrogenase
  2. NM_001329411.2NP_001316340.1  HHIP-like protein 1 isoform c

    Status: REVIEWED

    Source sequence(s)
    AL160313
  3. NM_032425.5NP_115801.3  HHIP-like protein 1 isoform b precursor

    See identical proteins and their annotated locations for NP_115801.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AB593097, AY358173, BC132877
    Consensus CDS
    CCDS9953.1
    UniProtKB/Swiss-Prot
    Q96JK4
    UniProtKB/TrEMBL
    F1T0G3
    Related
    ENSP00000349757.2, ENST00000357223.2
    Conserved Domains (2) summary
    pfam03024
    Location:22183
    Folate_rec; Folate receptor family
    cl26817
    Location:193439
    GSDH; Glucose / Sorbosone dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    99604476..99680569
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537236.2XP_011535538.1  HHIP-like protein 1 isoform X1

    Conserved Domains (4) summary
    smart00202
    Location:608711
    SR; Scavenger receptor Cys-rich
    pfam00530
    Location:615711
    SRCR; Scavenger receptor cysteine-rich domain
    pfam03024
    Location:20118
    Folate_rec; Folate receptor family
    pfam07995
    Location:128374
    GSDH; Glucose / Sorbosone dehydrogenase
  2. XM_006720277.3XP_006720340.1  HHIP-like protein 1 isoform X2

    Conserved Domains (4) summary
    smart00202
    Location:598701
    SR; Scavenger receptor Cys-rich
    pfam00530
    Location:605701
    SRCR; Scavenger receptor cysteine-rich domain
    pfam03024
    Location:11108
    Folate_rec; Folate receptor family
    pfam07995
    Location:118364
    GSDH; Glucose / Sorbosone dehydrogenase
  3. XM_011537237.2XP_011535539.1  HHIP-like protein 1 isoform X4

    Conserved Domains (2) summary
    pfam03024
    Location:22183
    Folate_rec; Folate receptor family
    pfam07995
    Location:193439
    GSDH; Glucose / Sorbosone dehydrogenase
  4. XM_017021707.2XP_016877196.1  HHIP-like protein 1 isoform X3

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