Q9H329 (E41LB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Band 4.1-like protein 4B

Alternative name(s):
FERM-containing protein CG1
Protein EHM2

Gene names

Name:	EPB41L4B
Synonyms:	EHM2

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	900 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Cytoplasm › cytoskeleton By similarity.
Sequence similarities	Contains 1 FERM domain.
Sequence caution	The sequence AAG43366.1 differs from that shown. Reason: Frameshift at positions 19, 35 and 870. The sequence AAG43368.1 differs from that shown. Reason: Frameshift at positions 19 and 35.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	actomyosin structure organization Inferred from direct assay PubMed 22006950. Source: MGI
Cellular_component	apical part of cell Inferred from direct assay PubMed 22006950. Source: MGI cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW cytoskeleton Traceable author statement Ref.2. Source: ProtInc extrinsic to membrane Inferred from electronic annotation. Source: InterPro
Molecular_function	structural constituent of cytoskeleton Traceable author statement Ref.2. Source: ProtInc
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9H329-1)

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 2 (identifier: Q9H329-2)

The sequence of this isoform differs from the canonical sequence as follows:
     470-518: SYPLPSPVLS...QHQHQHQHHS → RPSFQDDRSH...MYRDKLMTAL
     519-900: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 900	900	Band 4.1-like protein 4B		PRO_0000219404
Regions
	Domain	85 – 369	285	FERM
	Compositional bias	504 – 517	14	His-rich
Natural variations
	Alternative sequence	470 – 518	49	SYPLP…HQHHS → RPSFQDDRSHWKASASGDDS HFDYVHDQNQKNLGGMQSMM YRDKLMTAL in isoform 2.		VSP_007202
	Alternative sequence	519 – 900	382	Missing in isoform 2.		VSP_007203
	Natural variant	816	1	N → T. Ref.1 Corresponds to variant rs3750450 [ dbSNP | Ensembl ].		VAR_048356
Experimental info
	Sequence conflict	73	1	V → M in BAA96079. Ref.2
	Sequence conflict	899	1	E → R in AAG43366. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 14, 2008. Version 2. Checksum: 9A4BD658DBE65BDE	FASTA	900	99,712
	10 20 30 40 50 60 MLRFLRRTFG RRSMQRYARG AAGRGAAGLG DERDGGPRGG PAAAASSSAL PAAPGGSVFP 70 80 90 100 110 120 AGGGPLLTGG AAVHISAAGA AKATLYCRVF LLDGTEVSVD LPKHAKGQDL FDQIVYHLDL 130 140 150 160 170 180 VETDYFGLQF LDSAQVAHWL DHAKPIKKQM KIGPAYALHF RVKYYSSEPN NLREEFTRYL 190 200 210 220 230 240 FVLQLRHDIL SGKLKCPYET AVELAALCLQ AELGECELPE HTPELVSEFR FIPNQTEAME 250 260 270 280 290 300 FDIFQRWKEC RGKSPAQAEL SYLNKAKWLE MYGVDMHVVR GRDGCEYSLG LTPTGILIFE 310 320 330 340 350 360 GANKIGLFFW PKITKMDFKK SKLTLVVVED DDQGREQEHT FVFRLDSART CKHLWKCAVE 370 380 390 400 410 420 HHAFFRLRTP GNSKSNRSDF IRLGSRFRFS GRTEYQATHG SRLRRTSTFE RKPSKRYPSR 430 440 450 460 470 480 RHSTFKASNP VIAAQLCSKT NPEVHNYQPQ YHPNIHPSQP RWHPHSPNVS YPLPSPVLSS 490 500 510 520 530 540 SDRLPFGIEE NGGTPFLTAA SGRHHHQHQH QHQHQHHSNY SLSLTLENKE GPLRSPNSSS 550 560 570 580 590 600 KSLTKLSPGT PALFSEAAAH LKKLELETVK AAGPWPPLHI NINKAEEKKV SEKTLQTPLL 610 620 630 640 650 660 PSPVADHVKC NILKAQLENA SRVNIQGGKE ESPFVNINKK SSLQDASVRS PIPIRVETAQ 670 680 690 700 710 720 PAVEKPEIKP PRVRKLTRQY SFDEDDLPPD LAEAVGVTTS TTTNTTTAAT QVSVPLPSPK 730 740 750 760 770 780 VQNVSSPHKS EGKGLLSPGA KSPSDRGGAF TLEPGDLLMD FTEATPLAEP ASNPHCAHSR 790 800 810 820 830 840 CSPPLSLPMK EETTGVCMYP PIKTRLIKTF PVDTMNPFPD TFTTGPQFTA DFRDSKLQCC 850 860 870 880 890 900 PGPTSPLIPA ATLRPLTETV STVQTIYTTR KPVSLAASAE TLRQELEREK MMKRLLMTEL
	Isoform 2 [UniParc]. Checksum: 7CF6295CD2BE4E21	FASTA	518	58,566
	10 20 30 40 50 60 MLRFLRRTFG RRSMQRYARG AAGRGAAGLG DERDGGPRGG PAAAASSSAL PAAPGGSVFP 70 80 90 100 110 120 AGGGPLLTGG AAVHISAAGA AKATLYCRVF LLDGTEVSVD LPKHAKGQDL FDQIVYHLDL 130 140 150 160 170 180 VETDYFGLQF LDSAQVAHWL DHAKPIKKQM KIGPAYALHF RVKYYSSEPN NLREEFTRYL 190 200 210 220 230 240 FVLQLRHDIL SGKLKCPYET AVELAALCLQ AELGECELPE HTPELVSEFR FIPNQTEAME 250 260 270 280 290 300 FDIFQRWKEC RGKSPAQAEL SYLNKAKWLE MYGVDMHVVR GRDGCEYSLG LTPTGILIFE 310 320 330 340 350 360 GANKIGLFFW PKITKMDFKK SKLTLVVVED DDQGREQEHT FVFRLDSART CKHLWKCAVE 370 380 390 400 410 420 HHAFFRLRTP GNSKSNRSDF IRLGSRFRFS GRTEYQATHG SRLRRTSTFE RKPSKRYPSR 430 440 450 460 470 480 RHSTFKASNP VIAAQLCSKT NPEVHNYQPQ YHPNIHPSQP RWHPHSPNVR PSFQDDRSHW 490 500 510 KASASGDDSH FDYVHDQNQK NLGGMQSMMY RDKLMTAL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31." Chadwick B.P., Leyne M., Gill S., Liebert C.B., Mull J., Mezey E., Robbins C.M., Pinkett H.W., Makalowska I., Maayan C., Blumenfeld A., Axelrod F.B., Brownstein M., Gusella J.F., Slaugenhaupt S.A. Mamm. Genome 11:81-83(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT THR-816.
[2]	"Molecular cloning of a novel NF2/ERM/4.1 superfamily gene, Ehm2, that is expressed in high-metastatic K1735 murine melanoma cells." Shimizu K., Nagamachi Y., Tani M., Kimura K., Shiroishi T., Wakana S., Yokota J. Genomics 65:113-120(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[3]	"DNA sequence and analysis of human chromosome 9." Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I. Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF153416 mRNA. Translation: AAG43366.1. Frameshift. AF153418 mRNA. Translation: AAG43368.1. Frameshift. AB032179 mRNA. Translation: BAA96079.2. AL359963, AL358815 Genomic DNA. Translation: CAH71092.1. AL359963, AL358815 Genomic DNA. Translation: CAH71093.1. AL358815, AL359963 Genomic DNA. Translation: CAI15130.1. AL358815, AL359963 Genomic DNA. Translation: CAI15129.1.
IPI	IPI00100362. IPI00152953.
RefSeq	NP_060894.2. NM_018424.2. NP_061987.3. NM_019114.3.
UniGene	Hs.591901.
3D structure databases
ProteinModelPortal	Q9H329.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q9H329. 1 interaction.
STRING	9606.ENSP00000363694.
PTM databases
PhosphoSite	Q9H329.
Polymorphism databases
DMDM	209572611.
Proteomic databases
PaxDb	Q9H329.
PRIDE	Q9H329.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000374557; ENSP00000363685; ENSG00000095203. ENST00000374566; ENSP00000363694; ENSG00000095203.
GeneID	54566.
KEGG	hsa:54566.
UCSC	uc004bdz.1. human. uc004bea.3. human.
Organism-specific databases
CTD	54566.
GeneCards	GC09M111934.
HGNC	HGNC:19818. EPB41L4B.
HPA	HPA042862.
MIM	610340. gene.
neXtProt	NX_Q9H329.
PharmGKB	PA134986250.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG269561.
HOGENOM	HOG000231632.
HOVERGEN	HBG051434.
OrthoDB	EOG444KKG.
Gene expression databases
Bgee	Q9H329.
CleanEx	HS_EPB41L4B.
Genevestigator	Q9H329.
GermOnline	ENSG00000095203. Homo sapiens.
Family and domain databases
Gene3D	1.20.80.10. 1 hit. 2.30.29.30. 1 hit.
InterPro	IPR019749. Band_41_domain. IPR019750. Band_41_fam. IPR000798. Ez/rad/moesin_like. IPR014847. FERM-adjacent. IPR014352. FERM/acyl-CoA-bd_prot_3-hlx. IPR019748. FERM_central. IPR019747. FERM_CS. IPR000299. FERM_domain. IPR018979. FERM_N. IPR018980. FERM_PH-like_C. IPR011993. PH_like_dom. [Graphical view]
Pfam	PF08736. FA. 1 hit. PF09380. FERM_C. 1 hit. PF00373. FERM_M. 1 hit. PF09379. FERM_N. 1 hit. [Graphical view]
PRINTS	PR00935. BAND41. PR00661. ERMFAMILY.
SMART	SM00295. B41. 1 hit. [Graphical view]
SUPFAM	SSF47031. FERM_3-hlx. 1 hit.
PROSITE	PS00660. FERM_1. False negative. PS00661. FERM_2. 1 hit. PS50057. FERM_3. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	EPB41L4B. human.
GenomeRNAi	54566.
NextBio	57050.
SOURCE	Search...

Entry information

Entry name

E41LB_HUMAN

Accession

Primary (citable) accession number: Q9H329
Secondary accession number(s): Q5T4G5 , Q5T4G6, Q9H328, Q9P2V3

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 23, 2003
Last sequence update:	October 14, 2008
Last modified:	May 1, 2013
This is version 100 of the entry and version 2 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.