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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
Complete GO annotation...

Keywords - Molecular functioni

GTPase 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

Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134903991.

Polymorphism and mutation databases

BioMutaiELMOD1.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 334334ELMO domain-containing protein 1PRO_0000225014Add
BLAST

Proteomic databases

PaxDbiQ8N336.
PeptideAtlasiQ8N336.
PRIDEiQ8N336.

PTM databases

PhosphoSiteiQ8N336.

Expressioni

Gene expression databases

BgeeiQ8N336.
CleanExiHS_ELMOD1.
ExpressionAtlasiQ8N336. baseline and differential.
GenevisibleiQ8N336. HS.

Organism-specific databases

HPAiHPA038434.
HPA038435.

Interactioni

Protein-protein interaction databases

BioGridi120702. 7 interactions.
IntActiQ8N336. 1 interaction.
MINTiMINT-1460488.
STRINGi9606.ENSP00000265840.

Structurei

3D structure databases

ProteinModelPortaliQ8N336.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini133 – 314182ELMOPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 ELMO domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG2998. Eukaryota.
ENOG410XRXC. LUCA.
GeneTreeiENSGT00390000006017.
HOGENOMiHOG000007810.
HOVERGENiHBG056692.
InParanoidiQ8N336.
OMAiPQHEEML.
PhylomeDBiQ8N336.
TreeFamiTF323472.

Family and domain databases

InterProiIPR006816. ELMO_dom.
IPR030722. ELMOD1.
[Graphical view]
PANTHERiPTHR12771:SF18. PTHR12771:SF18. 2 hits.
PfamiPF04727. ELMO_CED12. 1 hit.
[Graphical view]
PROSITEiPS51335. ELMO. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 136136Missing in isoform 2. 1 PublicationVSP_044832Add
BLAST
Alternative sequencei208 – 2158Missing in isoform 2 and isoform 3. 1 PublicationVSP_044833

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ8N336.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120702. 7 interactions.
IntActiQ8N336. 1 interaction.
MINTiMINT-1460488.
STRINGi9606.ENSP00000265840.

PTM databases

PhosphoSiteiQ8N336.

Polymorphism and mutation databases

BioMutaiELMOD1.

Proteomic databases

PaxDbiQ8N336.
PeptideAtlasiQ8N336.
PRIDEiQ8N336.

Protocols and materials databases

DNASUi55531.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi55531.
GeneCardsiELMOD1.
HGNCiHGNC:25334. ELMOD1.
HPAiHPA038434.
HPA038435.
MIMi615456. gene.
neXtProtiNX_Q8N336.
PharmGKBiPA134903991.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2998. Eukaryota.
ENOG410XRXC. LUCA.
GeneTreeiENSGT00390000006017.
HOGENOMiHOG000007810.
HOVERGENiHBG056692.
InParanoidiQ8N336.
OMAiPQHEEML.
PhylomeDBiQ8N336.
TreeFamiTF323472.

Miscellaneous databases

GenomeRNAii55531.
PROiQ8N336.
SOURCEiSearch...

Gene expression databases

BgeeiQ8N336.
CleanExiHS_ELMOD1.
ExpressionAtlasiQ8N336. baseline and differential.
GenevisibleiQ8N336. HS.

Family and domain databases

InterProiIPR006816. ELMO_dom.
IPR030722. ELMOD1.
[Graphical view]
PANTHERiPTHR12771:SF18. PTHR12771:SF18. 2 hits.
PfamiPF04727. ELMO_CED12. 1 hit.
[Graphical view]
PROSITEiPS51335. ELMO. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Kidney.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Hippocampus.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 138-334 (ISOFORM 1).
    Tissue: Brain.
  6. "ELMOD2 is an Arl2 GTPase-activating protein that also acts on Arfs."
    Bowzard J.B., Cheng D., Peng J., Kahn R.A.
    J. Biol. Chem. 282:17568-17580(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.

Entry informationi

Entry nameiELMD1_HUMAN
AccessioniPrimary (citable) accession number: Q8N336
Secondary accession number(s): B4E167, G5E9S5, Q9NPW3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: March 7, 2006
Last modified: July 6, 2016
This is version 103 of the entry and version 3 of the sequence. [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
  3. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.