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Protein

ELMO domain-containing protein 1

Gene

ELMOD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family.1 Publication

GO - Molecular functioni

  • GTPase activator activity Source: UniProtKB

GO - Biological processi

  • positive regulation of protein targeting to mitochondrion Source: ParkinsonsUK-UCL
  • regulation of protein stability Source: ParkinsonsUK-UCL

Keywordsi

Molecular functionGTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
ELMO domain-containing protein 1
Gene namesi
Name:ELMOD1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:25334. ELMOD1.

Subcellular locationi

GO - Cellular componenti

Pathology & Biotechi

Organism-specific databases

DisGeNETi55531.
OpenTargetsiENSG00000110675.
PharmGKBiPA134903991.

Polymorphism and mutation databases

BioMutaiELMOD1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002250141 – 334ELMO domain-containing protein 1Add BLAST334

Proteomic databases

PaxDbiQ8N336.
PeptideAtlasiQ8N336.
PRIDEiQ8N336.

PTM databases

PhosphoSitePlusiQ8N336.

Expressioni

Gene expression databases

BgeeiENSG00000110675.
CleanExiHS_ELMOD1.
ExpressionAtlasiQ8N336. baseline and differential.
GenevisibleiQ8N336. HS.

Organism-specific databases

HPAiHPA038434.
HPA038435.

Interactioni

Protein-protein interaction databases

BioGridi120702. 8 interactors.
IntActiQ8N336. 1 interactor.
MINTiMINT-1460488.
STRINGi9606.ENSP00000265840.

Structurei

3D structure databases

ProteinModelPortaliQ8N336.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini133 – 314ELMOPROSITE-ProRule annotationAdd BLAST182

Phylogenomic databases

eggNOGiKOG2998. Eukaryota.
ENOG410XRXC. LUCA.
GeneTreeiENSGT00390000006017.
HOGENOMiHOG000007810.
HOVERGENiHBG056692.
InParanoidiQ8N336.
OMAiGYRNLIA.
OrthoDBiEOG091G0E2U.
PhylomeDBiQ8N336.
TreeFamiTF323472.

Family and domain databases

InterProiView protein in InterPro
IPR006816. ELMO_dom.
IPR030722. ELMOD1.
PANTHERiPTHR12771:SF40. PTHR12771:SF40. 1 hit.
PfamiView protein in Pfam
PF04727. ELMO_CED12. 1 hit.
PROSITEiView protein in PROSITE
PS51335. ELMO. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N336-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MKHFLRMLIQ VCLYFYCKFL WRCLKFVMRK LTGRCELQRI CYNTKPGASR
60 70 80 90 100
TMKIETSLRD SKSKLLQTSV SVHPDAIEKT IEDIMELKKI NPDVNPQLGI
110 120 130 140 150
SLQACLLQIV GYRNLIADVE KLRREAYDSD NPQHEEMLLK LWKFLKPNTP
160 170 180 190 200
LESRISKQWC EIGFQGDDPK TDFRGMGLLG LYNLQYFAER DATAAQQVLS
210 220 230 240 250
DSLHPKCRDI TKEEISKFSK AEWEKKRMDK AIGYSFAIVG INITDLAYNL
260 270 280 290 300
LVSGALKTHF YNIAPEAPTL SHFQQTFCYL MHEFHKFWIE EDPMDIMEFN
310 320 330
RVREKFRKRI IKQLQNPDMA LCPHFAASEG LINM
Length:334
Mass (Da):39,052
Last modified:March 7, 2006 - v3
Checksum:i0B66F6FD397874A5
GO
Isoform 2 (identifier: Q8N336-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-136: Missing.
     208-215: Missing.

Note: No experimental confirmation available.
Show »
Length:190
Mass (Da):22,133
Checksum:i88CE6DC68143E52F
GO
Isoform 3 (identifier: Q8N336-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     208-215: Missing.

Note: No experimental confirmation available.
Show »
Length:326
Mass (Da):38,066
Checksum:i88BF07F6CCAE3044
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0448321 – 136Missing in isoform 2. 1 PublicationAdd BLAST136
Alternative sequenceiVSP_044833208 – 215Missing in isoform 2 and isoform 3. 1 Publication8

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK303689 mRNA. Translation: BAG64679.1.
AP000889 Genomic DNA. No translation available.
AP002353 Genomic DNA. No translation available.
CH471065 Genomic DNA. Translation: EAW67091.1.
BC028725 mRNA. Translation: AAH28725.3.
AL359601 mRNA. Translation: CAB94879.1.
CCDSiCCDS44723.1. [Q8N336-1]
CCDS44724.1. [Q8N336-3]
PIRiT50627.
RefSeqiNP_001123509.1. NM_001130037.1. [Q8N336-3]
NP_001294947.1. NM_001308018.1.
NP_061182.3. NM_018712.3. [Q8N336-1]
UniGeneiHs.495779.

Genome annotation databases

EnsembliENST00000265840; ENSP00000265840; ENSG00000110675. [Q8N336-1]
ENST00000443271; ENSP00000412257; ENSG00000110675. [Q8N336-3]
GeneIDi55531.
KEGGihsa:55531.
UCSCiuc001pjm.4. human. [Q8N336-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiELMD1_HUMAN
AccessioniPrimary (citable) accession number: Q8N336
Secondary accession number(s): B4E167, G5E9S5, Q9NPW3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: March 7, 2006
Last modified: August 30, 2017
This is version 110 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot