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O00423 (EMAL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 127. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Echinoderm microtubule-associated protein-like 1

Short name=EMAP-1
Short name=HuEMAP-1
Gene names
Name:EML1
Synonyms:EMAP1, EMAPL, EMAPL1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length815 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic By similarity.

Subcellular location

Cytoplasmcytoskeleton Potential.

Tissue specificity

Ubiquitous; expressed in most tissues with the exception of thymus and peripheral blood lymphocytes. Ref.5

Sequence similarities

Belongs to the WD repeat EMAP family.

Contains 11 WD repeats.

Sequence caution

The sequence AAB57824.1 differs from that shown. Reason: Frameshift at positions 168, 392, 405, 414 and 420.

The sequence CAD62313.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Cellular componentCytoplasm
Cytoskeleton
Microtubule
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
WD repeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentcytoplasm

Inferred from electronic annotation. Source: UniProtKB-KW

microtubule

Inferred from electronic annotation. Source: UniProtKB-KW

microtubule associated complex

Traceable author statement Ref.1. Source: ProtInc

   Molecular_functioncalcium ion binding

Non-traceable author statement Ref.1. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

ISG20L2Q9H9L33EBI-751327,EBI-751335

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O00423-1)

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.
Isoform 3 (identifier: O00423-3)

The sequence of this isoform differs from the canonical sequence as follows:
     127-127: K → KRLNRSVSLLNACKLNRSTP
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 815815Echinoderm microtubule-associated protein-like 1
PRO_0000050961

Regions

Repeat269 – 31850WD 1
Repeat323 – 36644WD 2
Repeat369 – 40840WD 3
Repeat416 – 45439WD 4
Repeat458 – 49740WD 5
Repeat541 – 58040WD 6
Repeat582 – 62140WD 7
Repeat624 – 66340WD 8
Repeat670 – 70940WD 9
Repeat737 – 77640WD 10
Repeat782 – 81534WD 11
Compositional bias160 – 1667Poly-Ser

Natural variations

Alternative sequence1271K → KRLNRSVSLLNACKLNRSTP in isoform 3.
VSP_024476
Natural variant3771A → V.
Corresponds to variant rs34198557 [ dbSNP | Ensembl ].
VAR_031720
Natural variant5521H → N. Ref.3
Corresponds to variant rs17853154 [ dbSNP | Ensembl ].
VAR_031721
Natural variant5561S → P. Ref.1 Ref.2 Ref.3
Corresponds to variant rs2250718 [ dbSNP | Ensembl ].
VAR_031722

Experimental info

Sequence conflict93 – 953LRT → FRS in AAB57824. Ref.1
Sequence conflict1061K → I in AAB57824. Ref.1
Sequence conflict1171V → F in AAB57824. Ref.1
Sequence conflict1201E → D in AAB57824. Ref.1
Sequence conflict1891M → L in AAB57824. Ref.1
Sequence conflict464 – 4652FA → SP in AAB57824. Ref.1
Sequence conflict464 – 4652FA → SP in CAD12600. Ref.2
Sequence conflict499 – 5002IP → VS in CAD62313. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified July 28, 2009. Version 3.
Checksum: A1476F75F3537205

FASTA81589,861
        10         20         30         40         50         60 
MEDGFSSYSS LYDTSSLLQF CNDDSASAAS SMEVTDRIAS LEQRVQMQED DIQLLKSALA 

        70         80         90        100        110        120 
DVVRRLNITE EQQAVLNRKG PTKARPLMQT LPLRTTVNNG TVLPKKPTGS LPSPSGVRKE 

       130        140        150        160        170        180 
TAVPATKSNI KRTSSSERVS PGGRRESNGD SRGNRNRTGS TSSSSSGKKN SESKPKEPVF 

       190        200        210        220        230        240 
SAEEGYVKMF LRGRPVTMYM PKDQVDSYSL EAKVELPTKR LKLEWVYGYR GRDCRNNLYL 

       250        260        270        280        290        300 
LPTGETVYFI ASVVVLYNVE EQLQRHYAGH NDDVKCLAVH PDRITIATGQ VAGTSKDGKQ 

       310        320        330        340        350        360 
LPPHVRIWDS VTLNTLHVIG IGFFDRAVTC IAFSKSNGGT NLCAVDDSND HVLSVWDWQK 

       370        380        390        400        410        420 
EEKLADVKCS NEAVFAADFH PTDTNIIVTC GKSHLYFWTL EGSSLNKKQG LFEKQEKPKF 

       430        440        450        460        470        480 
VLCVTFSENG DTITGDSSGN ILVWGKGTNR ISYAVQGAHE GGIFALCMLR DGTLVSGGGK 

       490        500        510        520        530        540 
DRKLISWSGN YQKLRKTEIP EQFGPIRTVA EGKGDVILIG TTRNFVLQGT LSGDFTPITQ 

       550        560        570        580        590        600 
GHTDELWGLA IHASKSQFLT CGHDKHATLW DAVGHRPVWD KIIEDPAQSS GFHPSGSVVA 

       610        620        630        640        650        660 
VGTLTGRWFV FDTETKDLVT VHTDGNEQLS VMRYSPDGNF LAIGSHDNCI YIYGVSDNGR 

       670        680        690        700        710        720 
KYTRVGKCSG HSSFITHLDW SVNSQFLVSN SGDYEILYWV PSACKQVVSV ETTRDIEWAT 

       730        740        750        760        770        780 
YTCTLGFHVF GVWPEGSDGT DINAVCRAHE KKLLSTGDDF GKVHLFSYPC SQFRAPSHIY 

       790        800        810 
GGHSSHVTNV DFLCEDSHLI STGGKDTSIM QWRVI 

« Hide

Isoform 3 [UniParc].

Checksum: 66B7AE5D761B3AA3
Show »

FASTA83491,985

References

« Hide 'large scale' references
[1]"Isolation of a novel human homologue of the gene coding for echinoderm microtubule-associated protein (EMAP) from the Usher syndrome type 1a locus at 14q32."
Eudy J.D., Ma-Edmonds M., Yao S.F., Talmadge C.B., Kelley P.M., Weston M.D., Kimberling W.J., Sumegi J.
Genomics 43:104-106(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT PRO-556.
[2]"Complete exon-intron structure of human homologue of the gene coding the echinoderm microtubule-associated protein (EMAP)."
Gerber S., Sumegi J., Rozet J.-M., Perrault I., Ducroq D., Munnich A., Kaplan J.
Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT PRO-556.
[3]"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), VARIANTS ASN-552 AND PRO-556.
Tissue: Brain and Uterus.
[4]"Full-length cDNA libraries and normalization."
Li W.B., Gruber C., Jessee J., Polayes D.
Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-500 (ISOFORM 3).
Tissue: Fetal brain.
[5]"Sequence and expression patterns of a human EMAP-related protein-2 (HuEMAP-2)."
Lepley D.M., Palange J.M., Suprenant K.A.
Gene 237:343-349(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U97018 mRNA. Translation: AAB57824.1. Frameshift.
AJ420603 expand/collapse EMBL AC list , AJ428183, AJ428184, AJ428185, AJ428189, AJ428191, AJ428193, AJ428195, AJ428197, AJ496645, AJ496644, AJ428200, AJ428199, AJ428198, AJ428196, AJ428194, AJ428192, AJ428190, AJ428188, AJ428187, AJ428186 Genomic DNA. Translation: CAD12600.2.
BC032541 mRNA. Translation: AAH32541.1.
BC033043 mRNA. Translation: AAH33043.1.
BX247979 mRNA. Translation: CAD62313.1. Different initiation.
RefSeqNP_001008707.1. NM_001008707.1.
NP_004425.2. NM_004434.2.
UniGeneHs.12451.

3D structure databases

ProteinModelPortalO00423.
SMRO00423. Positions 210-792.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108324. 2 interactions.
IntActO00423. 1 interaction.
MINTMINT-1457362.
STRING9606.ENSP00000334314.

PTM databases

PhosphoSiteO00423.

Proteomic databases

PaxDbO00423.
PRIDEO00423.

Protocols and materials databases

DNASU2009.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000262233; ENSP00000262233; ENSG00000066629. [O00423-1]
ENST00000334192; ENSP00000334314; ENSG00000066629. [O00423-3]
GeneID2009.
KEGGhsa:2009.
UCSCuc001ygq.3. human. [O00423-3]
uc001ygs.3. human. [O00423-1]

Organism-specific databases

CTD2009.
GeneCardsGC14P100259.
H-InvDBHIX0011963.
HGNCHGNC:3330. EML1.
HPACAB033137.
HPA049105.
MIM602033. gene.
neXtProtNX_O00423.
PharmGKBPA27767.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2319.
HOGENOMHOG000294061.
HOVERGENHBG051470.
OMAFRAPSHV.
PhylomeDBO00423.
TreeFamTF317832.

Enzyme and pathway databases

SignaLinkO00423.

Gene expression databases

ArrayExpressO00423.
BgeeO00423.
CleanExHS_EML1.
GenevestigatorO00423.

Family and domain databases

Gene3D2.130.10.10. 3 hits.
InterProIPR005108. HELP.
IPR011047. Quinonprotein_ADH-like_supfam.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamPF03451. HELP. 1 hit.
PF00400. WD40. 5 hits.
[Graphical view]
SMARTSM00320. WD40. 10 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 1 hit.
SSF50998. SSF50998. 1 hit.
PROSITEPS50082. WD_REPEATS_2. 3 hits.
PS50294. WD_REPEATS_REGION. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSEML1. human.
GeneWikiEML1.
GenomeRNAi2009.
NextBio8131.
PROO00423.
SOURCESearch...

Entry information

Entry nameEMAL1_HUMAN
AccessionPrimary (citable) accession number: O00423
Secondary accession number(s): Q86U15 expand/collapse secondary AC list , Q8N536, Q8N5C4, Q8WWL6
Entry history
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: July 28, 2009
Last modified: March 19, 2014
This is version 127 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM