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Protein

ELMO domain-containing protein 3

Gene

ELMOD3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Acts as a GTPase-activating protein (GAP) for ARL2 with low specific activity.1 Publication

Keywordsi

Molecular functionGTPase activation

Names & Taxonomyi

Protein namesi
Recommended name:
ELMO domain-containing protein 3
Alternative name(s):
RNA-binding motif and ELMO domain-containing protein 1
RNA-binding motif protein 29
RNA-binding protein 29
Gene namesi
Name:ELMOD3
Synonyms:RBED1, RBM29
ORF Names:PP4068
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi

Organism-specific databases

EuPathDBiHostDB:ENSG00000115459.17
HGNCiHGNC:26158 ELMOD3
MIMi615427 gene
neXtProtiNX_Q96FG2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal recessive, 88 (DFNB88)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic deafness characterized by prelingual onset of severe to profound mixed conductive and sensorineural hearing loss.
See also OMIM:615429
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070125265L → S in DFNB88; perturbed subcellular location with loss of targeting to stereocilia and concentration in the nucleus; loss of ARL2 GAP activity. 1 PublicationCorresponds to variant dbSNP:rs587777040EnsemblClinVar.1

Keywords - Diseasei

Deafness, Disease mutation, Non-syndromic deafness

Organism-specific databases

DisGeNETi84173
MalaCardsiELMOD3
MIMi615429 phenotype
OpenTargetsiENSG00000115459
Orphaneti90636 Autosomal recessive non-syndromic sensorineural deafness type DFNB
PharmGKBiPA164719009

Polymorphism and mutation databases

BioMutaiELMOD3
DMDMi313104101

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002749031 – 381ELMO domain-containing protein 3Add BLAST381

Proteomic databases

MaxQBiQ96FG2
PaxDbiQ96FG2
PeptideAtlasiQ96FG2
PRIDEiQ96FG2

PTM databases

iPTMnetiQ96FG2
PhosphoSitePlusiQ96FG2

Expressioni

Tissue specificityi

Both isoform 1 and isoform 6 are widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000115459
CleanExiHS_ELMOD3
ExpressionAtlasiQ96FG2 baseline and differential
GenevisibleiQ96FG2 HS

Organism-specific databases

HPAiHPA012126

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
MAGEA6P433603EBI-10285740,EBI-1045155

Protein-protein interaction databases

BioGridi123927, 4 interactors
IntActiQ96FG2, 1 interactor
STRINGi9606.ENSP00000318264

Structurei

3D structure databases

ProteinModelPortaliQ96FG2
SMRiQ96FG2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini170 – 324ELMOPROSITE-ProRule annotationAdd BLAST155

Phylogenomic databases

eggNOGiKOG2998 Eukaryota
ENOG410XRXC LUCA
GeneTreeiENSGT00390000009488
HOVERGENiHBG054776
InParanoidiQ96FG2
OMAiWRTQQKT
OrthoDBiEOG091G09YU
PhylomeDBiQ96FG2
TreeFamiTF323472

Family and domain databases

InterProiView protein in InterPro
IPR006816 ELMO_dom
IPR030731 ELMOD3
PANTHERiPTHR12771:SF2 PTHR12771:SF2, 1 hit
PfamiView protein in Pfam
PF04727 ELMO_CED12, 1 hit
PROSITEiView protein in PROSITE
PS51335 ELMO, 1 hit

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96FG2-1) [UniParc]FASTAAdd to basket
Also known as: B/C/D

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
MNEKSCSFHS KEELRDGQGE RLSAGYSPSY DKDKSVLAFR GIPISELKNH
60 70 80 90 100
GILQALTTEA YEWEPRVVST EVVRAQEEWE AVDTIQPETG SQASSEQPGQ
110 120 130 140 150
LISFSEALQH FQTVDLSPFK KRIQPTIRRT GLAALRHYLF GPPKLHQRLR
160 170 180 190 200
EERDLVLTIA QCGLDSQDPV HGRVLQTIYK KLTGSKFDCA LHGNHWEDLG
210 220 230 240 250
FQGANPATDL RGAGFLALLH LLYLVMDSKT LPMAQEIFRL SRHHIQQFPF
260 270 280 290 300
CLMSVNITHI AIQALREECL SRECNRQQKV IPVVNSFYAA TFLHLAHVWR
310 320 330 340 350
TQRKTISDSG FVLKELEVLA KKSPRRLLKT LELYLARVSK GQASLLGAQK
360 370 380
CYGPEAPPFK DLTFTGESDL QSHSSEGVWL I
Length:381
Mass (Da):43,046
Last modified:November 30, 2010 - v2
Checksum:iF40FF95FE89BA6A0
GO
Isoform 2 (identifier: Q96FG2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     247-254: QFPFCLMS → IERNQGKG
     255-381: Missing.

Show »
Length:254
Mass (Da):28,670
Checksum:i285688828C54063E
GO
Isoform 3 (identifier: Q96FG2-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     162-381: Missing.

Show »
Length:161
Mass (Da):18,292
Checksum:i29BAE42564AE7998
GO
Isoform 5 (identifier: Q96FG2-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     163-185: GLDSQDPVHGRVLQTIYKKLTGS → ECNASPQGSCCICGWARPCVLTL
     186-381: Missing.

Note: No experimental confirmation available.
Show »
Length:185
Mass (Da):20,788
Checksum:i72E547AC08119550
GO
Isoform 6 (identifier: Q96FG2-6) [UniParc]FASTAAdd to basket
Also known as: A

The sequence of this isoform differs from the canonical sequence as follows:
     315-381: ELEVLAKKSP...SHSSEGVWLI → GVLFLLGRPR...WSYTYDKHIF

Show »
Length:391
Mass (Da):44,344
Checksum:i4EC25A452894D6AC
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti40R → K in BAB15195 (PubMed:14702039).Curated1
Sequence conflicti105S → G in AAG23776 (PubMed:15498874).Curated1
Sequence conflicti290A → T in AAI12325 (PubMed:15489334).Curated1
Sequence conflicti325R → L in AAH10991 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03036266R → C. Corresponds to variant dbSNP:rs7564372EnsemblClinVar.1
Natural variantiVAR_03036370T → I. Corresponds to variant dbSNP:rs955592EnsemblClinVar.1
Natural variantiVAR_070125265L → S in DFNB88; perturbed subcellular location with loss of targeting to stereocilia and concentration in the nucleus; loss of ARL2 GAP activity. 1 PublicationCorresponds to variant dbSNP:rs587777040EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_022918162 – 381Missing in isoform 3. 1 PublicationAdd BLAST220
Alternative sequenceiVSP_022919163 – 185GLDSQ…KLTGS → ECNASPQGSCCICGWARPCV LTL in isoform 5. 2 PublicationsAdd BLAST23
Alternative sequenceiVSP_022920186 – 381Missing in isoform 5. 2 PublicationsAdd BLAST196
Alternative sequenceiVSP_022922247 – 254QFPFCLMS → IERNQGKG in isoform 2. 1 Publication8
Alternative sequenceiVSP_022923255 – 381Missing in isoform 2. 1 PublicationAdd BLAST127
Alternative sequenceiVSP_022924315 – 381ELEVL…GVWLI → GVLFLLGRPRLNAQCPRSRE PKVVARLVLAAVLPHPHFLK FQLTKISITHPLESASSPFS ALTVALFWSYTYDKHIF in isoform 6. 1 PublicationAdd BLAST67

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ256726 mRNA Translation: ABB69067.1
DQ256727 mRNA Translation: ABB69068.1
AK025630 mRNA Translation: BAB15195.1
AF258573 mRNA Translation: AAG23776.1
AC062037 Genomic DNA Translation: AAY24127.1
CH471053 Genomic DNA Translation: EAW99521.1
CH471053 Genomic DNA Translation: EAW99522.1
CH471053 Genomic DNA Translation: EAW99523.1
CH471053 Genomic DNA Translation: EAW99526.1
CH471053 Genomic DNA Translation: EAW99528.1
BC001942 mRNA Translation: AAH01942.1
BC010991 mRNA Translation: AAH10991.1
BC018666 mRNA Translation: AAH18666.1
BC112324 mRNA Translation: AAI12325.1
AL713718 mRNA Translation: CAD28512.1
CCDSiCCDS46352.1 [Q96FG2-1]
RefSeqiNP_001128493.1, NM_001135021.1 [Q96FG2-1]
NP_001128494.1, NM_001135022.1 [Q96FG2-1]
NP_001128495.1, NM_001135023.1 [Q96FG2-1]
NP_001316720.1, NM_001329791.1 [Q96FG2-1]
NP_001316721.1, NM_001329792.1 [Q96FG2-1]
NP_001316722.1, NM_001329793.1 [Q96FG2-1]
UniGeneiHs.269990

Genome annotation databases

EnsembliENST00000315658; ENSP00000318264; ENSG00000115459 [Q96FG2-6]
ENST00000393852; ENSP00000377434; ENSG00000115459 [Q96FG2-1]
ENST00000409013; ENSP00000387139; ENSG00000115459 [Q96FG2-1]
ENST00000409344; ENSP00000386248; ENSG00000115459 [Q96FG2-1]
ENST00000409890; ENSP00000386304; ENSG00000115459 [Q96FG2-1]
ENST00000410106; ENSP00000387134; ENSG00000115459 [Q96FG2-5]
ENST00000414593; ENSP00000394774; ENSG00000115459 [Q96FG2-3]
ENST00000444108; ENSP00000401984; ENSG00000115459 [Q96FG2-2]
ENST00000446464; ENSP00000407599; ENSG00000115459 [Q96FG2-2]
GeneIDi84173
KEGGihsa:84173
UCSCiuc002spf.5 human [Q96FG2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Entry informationi

Entry nameiELMD3_HUMAN
AccessioniPrimary (citable) accession number: Q96FG2
Secondary accession number(s): B8ZZD6
, D6W5K4, Q2M1K3, Q2XSU3, Q2XSU4, Q8NAC1, Q8TCK4, Q8WV70, Q8WY75, Q9H6Q8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: November 30, 2010
Last modified: March 28, 2018
This is version 117 of the entry and version 2 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 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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