Format

Send to:

Choose Destination

HROB homologous recombination factor with OB-fold [ Homo sapiens (human) ]

Gene ID: 78995, updated on 13-Mar-2020

Summary

Official Symbol
HROBprovided by HGNC
Official Full Name
homologous recombination factor with OB-foldprovided by HGNC
Primary source
HGNC:HGNC:28460
See related
Ensembl:ENSG00000125319 MIM:618611
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
MCM8IP; C17orf53
Expression
Broad expression in testis (RPKM 4.5), bone marrow (RPKM 2.8) and 14 other tissues See more
Orthologs

Genomic context

See HROB in Genome Data Viewer
Location:
17q21.31
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (44141930..44162477)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42219274..42239844)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene histone deacetylase 5 Neighboring gene uncharacterized LOC105371789 Neighboring gene RNA, U6 small nuclear 131, pseudogene Neighboring gene ASB16 antisense RNA 1 Neighboring gene ankyrin repeat and SOCS box containing 16 Neighboring gene transmembrane and ubiquitin like domain containing 2 Neighboring gene ataxin 7 like 3

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 meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
NHGRI GWA Catalog
New sequence variants associated with bone mineral density.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3130, FLJ11594

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
DNA synthesis involved in DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
female gamete generation ISS
Inferred from Sequence or Structural Similarity
more info
 
interstrand cross-link repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
male gamete generation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
site of DNA damage IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

Preferred Names
uncharacterized protein C17orf53
Names
MCM8-9-Interacting Protein)
homologous recombincation factor with OB-fold

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.

mRNA and Protein(s)

  1. NM_001171251.3NP_001164722.1  uncharacterized protein C17orf53 isoform 2

    See identical proteins and their annotated locations for NP_001164722.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) lacks one internal amino acid, compared to isoform 1.
    Source sequence(s)
    AK291924, AL834295
    Consensus CDS
    CCDS59293.1
    UniProtKB/Swiss-Prot
    Q8N3J3
    Related
    ENSP00000466618.1, ENST00000585683.5
    Conserved Domains (2) summary
    pfam15072
    Location:492575
    DUF4539; Domain of unknown function (DUF4539)
    pfam15671
    Location:274432
    PRR18; Proline-rich protein family 18
  2. NM_001321310.2NP_001308239.1  uncharacterized protein C17orf53 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC004596, AL834295, BC000121, HY032119
    Consensus CDS
    CCDS82136.1
    UniProtKB/Swiss-Prot
    Q8N3J3
    Related
    ENSP00000245382.5, ENST00000245382.6
    Conserved Domains (2) summary
    pfam14857
    Location:236340
    TMEM151; TMEM151 family
    pfam15072
    Location:417500
    DUF4539; Domain of unknown function (DUF4539)
  3. NM_001321311.2NP_001308240.1  uncharacterized protein C17orf53 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC004596, AL834295, HY032119
    UniProtKB/Swiss-Prot
    Q8N3J3
    Conserved Domains (2) summary
    pfam14857
    Location:236340
    TMEM151; TMEM151 family
    pfam15072
    Location:491574
    DUF4539; Domain of unknown function (DUF4539)
  4. NM_024032.5NP_076937.2  uncharacterized protein C17orf53 isoform 1

    See identical proteins and their annotated locations for NP_076937.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL834295, HY032119
    Consensus CDS
    CCDS11477.1
    UniProtKB/Swiss-Prot
    Q8N3J3
    Related
    ENSP00000313500.4, ENST00000319977.8
    Conserved Domains (2) summary
    pfam15072
    Location:493576
    DUF4539; Domain of unknown function (DUF4539)
    pfam15671
    Location:274432
    PRR18; Proline-rich protein family 18

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    44141930..44162477
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525192.2XP_011523494.1  uncharacterized protein C17orf53 isoform X6

    Conserved Domains (2) summary
    pfam15072
    Location:493521
    DUF4539; Domain of unknown function (DUF4539)
    pfam15671
    Location:274432
    PRR18; Proline-rich protein family 18
  2. XM_011525195.2XP_011523497.1  uncharacterized protein C17orf53 isoform X9

    Conserved Domains (1) summary
    pfam14857
    Location:236340
    TMEM151; TMEM151 family
  3. XM_011525189.2XP_011523491.1  uncharacterized protein C17orf53 isoform X3

    Conserved Domains (3) summary
    pfam14857
    Location:236340
    TMEM151; TMEM151 family
    pfam15072
    Location:446529
    DUF4539; Domain of unknown function (DUF4539)
    pfam15671
    Location:274432
    PRR18; Proline-rich protein family 18
  4. XM_011525190.2XP_011523492.1  uncharacterized protein C17orf53 isoform X4

    Conserved Domains (2) summary
    pfam15072
    Location:445528
    DUF4539; Domain of unknown function (DUF4539)
    pfam15671
    Location:274439
    PRR18; Proline-rich protein family 18
  5. XM_011525187.2XP_011523489.1  uncharacterized protein C17orf53 isoform X1

    Conserved Domains (2) summary
    pfam14857
    Location:236340
    TMEM151; TMEM151 family
    pfam15072
    Location:492575
    DUF4539; Domain of unknown function (DUF4539)
  6. XM_011525188.2XP_011523490.1  uncharacterized protein C17orf53 isoform X2

    Conserved Domains (2) summary
    pfam14857
    Location:236340
    TMEM151; TMEM151 family
    pfam15072
    Location:465548
    DUF4539; Domain of unknown function (DUF4539)
  7. XM_011525193.2XP_011523495.1  uncharacterized protein C17orf53 isoform X7

    Conserved Domains (2) summary
    pfam14857
    Location:236340
    TMEM151; TMEM151 family
    pfam15072
    Location:417500
    DUF4539; Domain of unknown function (DUF4539)
  8. XM_011525191.3XP_011523493.1  uncharacterized protein C17orf53 isoform X5

    Conserved Domains (2) summary
    pfam15072
    Location:493576
    DUF4539; Domain of unknown function (DUF4539)
    pfam15671
    Location:274432
    PRR18; Proline-rich protein family 18
  9. XM_011525194.2XP_011523496.1  uncharacterized protein C17orf53 isoform X8

    Conserved Domains (2) summary
    pfam14857
    Location:236340
    TMEM151; TMEM151 family
    pfam15072
    Location:493522
    DUF4539; Domain of unknown function (DUF4539)
  10. XM_011525197.2XP_011523499.1  uncharacterized protein C17orf53 isoform X10

    Conserved Domains (1) summary
    pfam15072
    Location:37120
    DUF4539; Domain of unknown function (DUF4539)

RNA

  1. XR_934545.2 RNA Sequence

  2. XR_002958064.1 RNA Sequence

Support Center