O00423 (EMAL1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Echinoderm microtubule-associated protein-like 1
Short name=EMAP-1
Short name=HuEMAP-1

Gene names

Name:	EML1
Synonyms:	EMAP1, EMAPL, EMAPL1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	815 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › cytoskeleton 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 component	Cytoplasm Cytoskeleton Microtubule
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat WD repeat
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	cytoplasm 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_function	calcium ion binding Non-traceable author statement Ref.1. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
ISG20L2	Q9H9L3	3	EBI-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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 815	815	Echinoderm microtubule-associated protein-like 1		PRO_0000050961
Regions
	Repeat	269 – 318	50	WD 1
	Repeat	323 – 366	44	WD 2
	Repeat	369 – 408	40	WD 3
	Repeat	416 – 454	39	WD 4
	Repeat	458 – 497	40	WD 5
	Repeat	541 – 580	40	WD 6
	Repeat	582 – 621	40	WD 7
	Repeat	624 – 663	40	WD 8
	Repeat	670 – 709	40	WD 9
	Repeat	737 – 776	40	WD 10
	Repeat	782 – 815	34	WD 11
	Compositional bias	160 – 166	7	Poly-Ser
Natural variations
	Alternative sequence	127	1	K → KRLNRSVSLLNACKLNRSTP in isoform 3.		VSP_024476
	Natural variant	377	1	A → V. Corresponds to variant rs34198557 [ dbSNP | Ensembl ].		VAR_031720
	Natural variant	552	1	H → N. Ref.3 Corresponds to variant rs17853154 [ dbSNP | Ensembl ].		VAR_031721
	Natural variant	556	1	S → P. Ref.1 Ref.2 Ref.3 Corresponds to variant rs2250718 [ dbSNP | Ensembl ].		VAR_031722
Experimental info
	Sequence conflict	93 – 95	3	LRT → FRS in AAB57824. Ref.1
	Sequence conflict	106	1	K → I in AAB57824. Ref.1
	Sequence conflict	117	1	V → F in AAB57824. Ref.1
	Sequence conflict	120	1	E → D in AAB57824. Ref.1
	Sequence conflict	189	1	M → L in AAB57824. Ref.1
	Sequence conflict	464 – 465	2	FA → SP in AAB57824. Ref.1
	Sequence conflict	464 – 465	2	FA → SP in CAD12600. Ref.2
	Sequence conflict	499 – 500	2	IP → VS in CAD62313. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 28, 2009. Version 3. Checksum: A1476F75F3537205	FASTA	815	89,861
	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
	Isoform 3 [UniParc]. Checksum: 66B7AE5D761B3AA3	FASTA	834	91,985
	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 TAVPATKRLN RSVSLLNACK LNRSTPSNIK RTSSSERVSP GGRRESNGDS RGNRNRTGST 190 200 210 220 230 240 SSSSSGKKNS ESKPKEPVFS AEEGYVKMFL RGRPVTMYMP KDQVDSYSLE AKVELPTKRL 250 260 270 280 290 300 KLEWVYGYRG RDCRNNLYLL PTGETVYFIA SVVVLYNVEE QLQRHYAGHN DDVKCLAVHP 310 320 330 340 350 360 DRITIATGQV AGTSKDGKQL PPHVRIWDSV TLNTLHVIGI GFFDRAVTCI AFSKSNGGTN 370 380 390 400 410 420 LCAVDDSNDH VLSVWDWQKE EKLADVKCSN EAVFAADFHP TDTNIIVTCG KSHLYFWTLE 430 440 450 460 470 480 GSSLNKKQGL FEKQEKPKFV LCVTFSENGD TITGDSSGNI LVWGKGTNRI SYAVQGAHEG 490 500 510 520 530 540 GIFALCMLRD GTLVSGGGKD RKLISWSGNY QKLRKTEIPE QFGPIRTVAE GKGDVILIGT 550 560 570 580 590 600 TRNFVLQGTL SGDFTPITQG HTDELWGLAI HASKSQFLTC GHDKHATLWD AVGHRPVWDK 610 620 630 640 650 660 IIEDPAQSSG FHPSGSVVAV GTLTGRWFVF DTETKDLVTV HTDGNEQLSV MRYSPDGNFL 670 680 690 700 710 720 AIGSHDNCIY IYGVSDNGRK YTRVGKCSGH SSFITHLDWS VNSQFLVSNS GDYEILYWVP 730 740 750 760 770 780 SACKQVVSVE TTRDIEWATY TCTLGFHVFG VWPEGSDGTD INAVCRAHEK KLLSTGDDFG 790 800 810 820 830 KVHLFSYPCS QFRAPSHIYG GHSSHVTNVD FLCEDSHLIS TGGKDTSIMQ WRVI

References

	« Hide 'large scale' referencesShow '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 , 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.
IPI	IPI00334011. IPI00550611.
RefSeq	NP_001008707.1. NM_001008707.1. NP_004425.2. NM_004434.2.
UniGene	Hs.12451.
3D structure databases
ProteinModelPortal	O00423.
ModBase	Search...
Protein-protein interaction databases
IntAct	O00423. 1 interaction.
MINT	MINT-1457362.
STRING	9606.ENSP00000334314.
PTM databases
PhosphoSite	O00423.
Proteomic databases
PaxDb	O00423.
PRIDE	O00423.
Protocols and materials databases
DNASU	2009.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000262233; ENSP00000262233; ENSG00000066629. ENST00000334192; ENSP00000334314; ENSG00000066629. ENST00000542138; ENSP00000446257; ENSG00000066629.
GeneID	2009.
KEGG	hsa:2009.
UCSC	uc001ygq.3. human. uc001ygs.3. human.
Organism-specific databases
CTD	2009.
GeneCards	GC14P100259.
H-InvDB	HIX0011963.
HGNC	HGNC:3330. EML1.
HPA	CAB033137.
MIM	602033. gene.
neXtProt	NX_O00423.
PharmGKB	PA27767.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG2319.
HOGENOM	HOG000294061.
HOVERGEN	HBG051470.
OMA	HPDKITI.
OrthoDB	EOG4CC40Q.
PhylomeDB	O00423.
Gene expression databases
ArrayExpress	O00423.
Bgee	O00423.
CleanEx	HS_EML1.
Genevestigator	O00423.
GermOnline	ENSG00000066629. Homo sapiens.
Family and domain databases
Gene3D	2.130.10.10. 3 hits.
InterPro	IPR005108. HELP. IPR011047. Quinonprotein_ADH-like_supfam. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR017986. WD40_repeat_dom. [Graphical view]
Pfam	PF03451. HELP. 1 hit. PF00400. WD40. 5 hits. [Graphical view]
SMART	SM00320. WD40. 10 hits. [Graphical view]
SUPFAM	SSF50998. Quin_alc_DH_like. 1 hit.
PROSITE	PS00678. WD_REPEATS_1. False negative. PS50082. WD_REPEATS_2. 3 hits. PS50294. WD_REPEATS_REGION. 2 hits. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	EML1. human.
GenomeRNAi	2009.
NextBio	8131.
SOURCE	Search...

Entry information

Entry name

EMAL1_HUMAN

Accession

Primary (citable) accession number: O00423
Secondary accession number(s): Q86U15 , Q8N536, Q8N5C4, Q8WWL6

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 18, 2001
Last sequence update:	July 28, 2009
Last modified:	May 1, 2013
This is version 119 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.