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UFM1 ubiquitin fold modifier 1 [ Homo sapiens (human) ]

Gene ID: 51569, updated on 7-Jun-2020

Summary

Official Symbol
UFM1provided by HGNC
Official Full Name
ubiquitin fold modifier 1provided by HGNC
Primary source
HGNC:HGNC:20597
See related
Ensembl:ENSG00000120686 MIM:610553
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
HLD14; BM-002; C13orf20
Summary
UFM1 is a ubiquitin-like protein that is conjugated to target proteins by E1-like activating enzyme UBA5 (UBE1DC1; MIM 610552) and E2-like conjugating enzyme UFC1 (MIM 610554) in a manner analogous to ubiquitylation (see UBE2M; MIM 603173) (Komatsu et al., 2004 [PubMed 15071506]).[supplied by OMIM, Dec 2008]
Expression
Ubiquitous expression in thyroid (RPKM 26.2), endometrium (RPKM 24.1) and 25 other tissues See more
Orthologs

Genomic context

See UFM1 in Genome Data Viewer
Location:
13q13.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (38349851..38363619)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (38923942..38937143)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2334 Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 9 Neighboring gene long intergenic non-protein coding RNA 571 Neighboring gene long intergenic non-protein coding RNA 437 Neighboring gene uncharacterized LOC105370167 Neighboring gene long intergenic non-protein coding RNA 366 Neighboring gene Sharpr-MPRA regulatory region 5265

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of protein import into nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein K69-linked ufmylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein K69-linked ufmylation IDA
Inferred from Direct Assay
more info
PubMed 
protein ufmylation IDA
Inferred from Direct Assay
more info
PubMed 
protein ufmylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of intracellular estrogen receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
response to endoplasmic reticulum stress IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

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_001286703.2NP_001273632.1  ubiquitin-fold modifier 1 isoform 2

    See identical proteins and their annotated locations for NP_001273632.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL356863
    UniProtKB/Swiss-Prot
    P61960
    Conserved Domains (1) summary
    cl00155
    Location:281
    UBQ; Ubiquitin-like proteins
  2. NM_001286704.2NP_001273633.1  ubiquitin-fold modifier 1 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region and initiates translation from an alternate start codon, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AL356863
    Consensus CDS
    CCDS66533.1
    UniProtKB/Swiss-Prot
    P61960
    Related
    ENSP00000368970.1, ENST00000379649.5
    Conserved Domains (1) summary
    cl00155
    Location:39101
    UBQ; Ubiquitin-like proteins
  3. NM_001286705.2NP_001273634.1  ubiquitin-fold modifier 1 isoform 4

    See identical proteins and their annotated locations for NP_001273634.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is shorter than isoform 1. Variants 4 and 5 encode the same isoform (4).
    Source sequence(s)
    AL356863
    UniProtKB/Swiss-Prot
    P61960
    Conserved Domains (1) summary
    cl28922
    Location:464
    Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
  4. NM_001286706.2NP_001273635.1  ubiquitin-fold modifier 1 isoform 4

    See identical proteins and their annotated locations for NP_001273635.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. The encoded isoform (4) has a distinct C-terminus and is shorter than isoform 1. Variants 4 and 5 encode the same isoform (4).
    Source sequence(s)
    AL356863
    UniProtKB/Swiss-Prot
    P61960
    Conserved Domains (1) summary
    cl28922
    Location:464
    Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
  5. NM_016617.4NP_057701.1  ubiquitin-fold modifier 1 isoform 1

    See identical proteins and their annotated locations for NP_057701.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AL356863
    Consensus CDS
    CCDS9366.1
    UniProtKB/Swiss-Prot
    P61960
    Related
    ENSP00000239878.4, ENST00000239878.9
    Conserved Domains (1) summary
    cd01766
    Location:478
    Ubl_UFM1; ubiquitin-like (Ubl) domain found in ubiquitin fold modifier 1 (UFM1)

RNA

  1. NR_104584.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL356863
  2. NR_104585.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the predicted ORF does not meet RefSeq quality criteria.
    Source sequence(s)
    AL356863

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_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    38349851..38363619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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