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Protein

Melanophilin

Gene

MLPH

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Rab effector protein involved in melanosome transport. Serves as link between melanosome-bound RAB27A and the motor protein MYO5A.1 Publication

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri64 – 10744FYVE-typeAdd
BLAST

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • Rab GTPase binding Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Ligandi

Metal-binding, Zinc

Names & Taxonomyi

Protein namesi
Recommended name:
Melanophilin
Alternative name(s):
Exophilin-3
Slp homolog lacking C2 domains a
Short name:
SlaC2-a
Synaptotagmin-like protein 2a
Gene namesi
Name:MLPH
Synonyms:SLAC2A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:29643. MLPH.

Subcellular locationi

GO - Cellular componenti

  • dendrite Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • perinuclear region of cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Griscelli syndrome 3 (GS3)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionRare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations.

See also OMIM:609227
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti35 – 351R → W in GS3; abolishes RAB27A binding. 1 Publication
VAR_018724

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi14 – 141E → A: Abolishes RAB27A binding. 1 Publication
Mutagenesisi24 – 241R → A: Decreases RAB27A binding. 1 Publication
Mutagenesisi32 – 321E → A: Abolishes RAB27A binding. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi609227. phenotype.
Orphaneti79478. Griscelli disease type 3.
PharmGKBiPA134899891.

Polymorphism and mutation databases

BioMutaiMLPH.
DMDMi32129730.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 600600MelanophilinPRO_0000190222Add
BLAST

Proteomic databases

MaxQBiQ9BV36.
PaxDbiQ9BV36.
PRIDEiQ9BV36.

PTM databases

PhosphoSiteiQ9BV36.

Expressioni

Gene expression databases

BgeeiQ9BV36.
CleanExiHS_MLPH.
ExpressionAtlasiQ9BV36. baseline and differential.
GenevisibleiQ9BV36. HS.

Organism-specific databases

HPAiHPA014685.

Interactioni

Subunit structurei

Binds RAB27A that has been activated by GTP-binding via its N-terminus. Binds MYO5A via its C-terminal coiled coil domain.

Binary interactionsi

WithEntry#Exp.IntActNotes
RAB27AP511593EBI-7042162,EBI-716881

Protein-protein interaction databases

BioGridi122531. 8 interactions.
DIPiDIP-44046N.
IntActiQ9BV36. 2 interactions.
MINTiMINT-3388002.
STRINGi9606.ENSP00000264605.

Structurei

3D structure databases

ProteinModelPortaliQ9BV36.
SMRiQ9BV36. Positions 4-144.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini4 – 124121RabBDPROSITE-ProRule annotationAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili373 – 496124Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Contains 1 FYVE-type zinc finger.Curated
Contains 1 RabBD (Rab-binding) domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Zinc fingeri64 – 10744FYVE-typeAdd
BLAST

Keywords - Domaini

Coiled coil, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiNOG135976.
GeneTreeiENSGT00390000013933.
HOGENOMiHOG000089970.
HOVERGENiHBG052454.
InParanoidiQ9BV36.
OMAiRCLQPYR.
OrthoDBiEOG76HQ10.
PhylomeDBiQ9BV36.
TreeFamiTF331599.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR006788. Myrip/Melanophilin.
IPR010911. Rab_BD.
IPR011011. Znf_FYVE_PHD.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF04698. Rab_eff_C. 1 hit.
[Graphical view]
SUPFAMiSSF57903. SSF57903. 1 hit.
PROSITEiPS50916. RABBD. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q9BV36-1) [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
MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR
60 70 80 90 100
ELLSDTAHLN ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ
110 120 130 140 150
GWICDPCHLA RVVKIGSLEW YYEHVKARFK RFGSAKVIRS LHGRLQGGAG
160 170 180 190 200
PELISEERSG DSDQTDEDGE PGSEAQAQAQ PFGSKKKRLL SVHDFDFEGD
210 220 230 240 250
SDDSTQPQGH SLHLSSVPEA RDSPQSLTDE SCSEKAAPHK AEGLEEADTG
260 270 280 290 300
ASGCHSHPEE QPTSISPSRH GALAELCPPG GSHRMALGTA AALGSNVIRN
310 320 330 340 350
EQLPLQYLAD VDTSDEESIR AHVMASHHSK RRGRASSESQ IFELNKHISA
360 370 380 390 400
VECLLTYLEN TVVPPLAKGL GAGVRTEADV EEEALRRKLE ELTSNVSDQE
410 420 430 440 450
TSSEEEEAKD EKAEPNRDKS VGPLPQADPE VGTAAHQTNR QEKSPQDPGD
460 470 480 490 500
PVQYNRTTDE ELSELEDRVA VTASEVQQAE SEVSDIESRI AALRAAGLTV
510 520 530 540 550
KPSGKPRRKS NLPIFLPRVA GKLGKRPEDP NADPSSEAKA MAVPYLLRRK
560 570 580 590 600
FSNSLKSQGK DDDSFDRKSV YRGSLTQRNP NARKGMASHT FAKPVVAHQS
Length:600
Mass (Da):65,949
Last modified:June 1, 2001 - v1
Checksum:i90F48D0B3250AD98
GO
Isoform 2 (identifier: Q9BV36-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     341-368: Missing.

Show »
Length:572
Mass (Da):62,811
Checksum:iC11EDAE008804679
GO
Isoform 3 (identifier: Q9BV36-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     186-225: Missing.
     341-368: Missing.
     430-481: Missing.

Show »
Length:480
Mass (Da):52,642
Checksum:i2F014885D1BF691F
GO
Isoform 4 (identifier: Q9BV36-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     514-551: IFLPRVAGKL...AVPYLLRRKF → ALYEGTLSLC...LNHVASCGNP
     552-600: Missing.

Note: No experimental confirmation available.
Show »
Length:551
Mass (Da):60,473
Checksum:i11A629FFCC76DB1D
GO
Isoform 5 (identifier: Q9BV36-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     226-368: Missing.

Show »
Length:457
Mass (Da):50,735
Checksum:i3DC8A09F42233B47
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti109 – 1091L → P in BAB13984 (PubMed:14702039).Curated
Sequence conflicti143 – 1431G → R in BAG52834 (PubMed:14702039).Curated
Sequence conflicti253 – 2531G → R in AK225381 (PubMed:14702039).Curated
Sequence conflicti577 – 5771Q → R in BAB13984 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti35 – 351R → W in GS3; abolishes RAB27A binding. 1 Publication
VAR_018724
Natural varianti139 – 1391R → W.
Corresponds to variant rs2292880 [ dbSNP | Ensembl ].
VAR_015690
Natural varianti153 – 1531L → P.
Corresponds to variant rs3751109 [ dbSNP | Ensembl ].
VAR_015691
Natural varianti163 – 1631D → N.
Corresponds to variant rs3751108 [ dbSNP | Ensembl ].
VAR_015692
Natural varianti172 – 1721G → D.
Corresponds to variant rs3751107 [ dbSNP | Ensembl ].
VAR_015693
Natural varianti289 – 2891T → I.
Corresponds to variant rs11883500 [ dbSNP | Ensembl ].
VAR_038410
Natural varianti347 – 3471H → R.
Corresponds to variant rs2292884 [ dbSNP | Ensembl ].
VAR_015694
Natural varianti374 – 3741V → A.1 Publication
Corresponds to variant rs3817362 [ dbSNP | Ensembl ].
VAR_015695
Natural varianti451 – 4511P → S.1 Publication
Corresponds to variant rs58256353 [ dbSNP | Ensembl ].
VAR_061754

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei186 – 22540Missing in isoform 3. 1 PublicationVSP_042158Add
BLAST
Alternative sequencei226 – 368143Missing in isoform 5. 1 PublicationVSP_055730Add
BLAST
Alternative sequencei341 – 36828Missing in isoform 2 and isoform 3. 2 PublicationsVSP_007554Add
BLAST
Alternative sequencei430 – 48152Missing in isoform 3. 1 PublicationVSP_042159Add
BLAST
Alternative sequencei514 – 55138IFLPR…LRRKF → ALYEGTLSLCSEDLKHTHPD SVKSKRSRLNHVASCGNP in isoform 4. 1 PublicationVSP_054367Add
BLAST
Alternative sequencei552 – 60049Missing in isoform 4. 1 PublicationVSP_054368Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022207 mRNA. Translation: BAB13984.1.
AK094168 mRNA. Translation: BAG52834.1.
AK296745 mRNA. Translation: BAG59329.1.
AK225381 mRNA. No translation available.
AC104667 Genomic DNA. No translation available.
AC112721 Genomic DNA. No translation available.
CH471063 Genomic DNA. Translation: EAW71112.1.
BC001653 mRNA. Translation: AAH01653.1.
BC051269 mRNA. Translation: AAH51269.1.
CCDSiCCDS2518.1. [Q9BV36-1]
CCDS42836.1. [Q9BV36-2]
CCDS63172.1. [Q9BV36-5]
CCDS63173.1. [Q9BV36-3]
RefSeqiNP_001035932.1. NM_001042467.2. [Q9BV36-2]
NP_001268402.1. NM_001281473.1. [Q9BV36-3]
NP_001268403.1. NM_001281474.1. [Q9BV36-5]
NP_077006.1. NM_024101.6. [Q9BV36-1]
UniGeneiHs.102406.

Genome annotation databases

EnsembliENST00000264605; ENSP00000264605; ENSG00000115648.
ENST00000409373; ENSP00000386780; ENSG00000115648. [Q9BV36-3]
ENST00000410032; ENSP00000386338; ENSG00000115648. [Q9BV36-5]
GeneIDi79083.
KEGGihsa:79083.
UCSCiuc002vws.3. human.
uc002vwt.3. human. [Q9BV36-1]
uc002vwu.3. human. [Q9BV36-2]
uc002vwv.3. human. [Q9BV36-3]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

MLPHbase

MLPH mutation db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK022207 mRNA. Translation: BAB13984.1.
AK094168 mRNA. Translation: BAG52834.1.
AK296745 mRNA. Translation: BAG59329.1.
AK225381 mRNA. No translation available.
AC104667 Genomic DNA. No translation available.
AC112721 Genomic DNA. No translation available.
CH471063 Genomic DNA. Translation: EAW71112.1.
BC001653 mRNA. Translation: AAH01653.1.
BC051269 mRNA. Translation: AAH51269.1.
CCDSiCCDS2518.1. [Q9BV36-1]
CCDS42836.1. [Q9BV36-2]
CCDS63172.1. [Q9BV36-5]
CCDS63173.1. [Q9BV36-3]
RefSeqiNP_001035932.1. NM_001042467.2. [Q9BV36-2]
NP_001268402.1. NM_001281473.1. [Q9BV36-3]
NP_001268403.1. NM_001281474.1. [Q9BV36-5]
NP_077006.1. NM_024101.6. [Q9BV36-1]
UniGeneiHs.102406.

3D structure databases

ProteinModelPortaliQ9BV36.
SMRiQ9BV36. Positions 4-144.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122531. 8 interactions.
DIPiDIP-44046N.
IntActiQ9BV36. 2 interactions.
MINTiMINT-3388002.
STRINGi9606.ENSP00000264605.

PTM databases

PhosphoSiteiQ9BV36.

Polymorphism and mutation databases

BioMutaiMLPH.
DMDMi32129730.

Proteomic databases

MaxQBiQ9BV36.
PaxDbiQ9BV36.
PRIDEiQ9BV36.

Protocols and materials databases

DNASUi79083.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264605; ENSP00000264605; ENSG00000115648.
ENST00000409373; ENSP00000386780; ENSG00000115648. [Q9BV36-3]
ENST00000410032; ENSP00000386338; ENSG00000115648. [Q9BV36-5]
GeneIDi79083.
KEGGihsa:79083.
UCSCiuc002vws.3. human.
uc002vwt.3. human. [Q9BV36-1]
uc002vwu.3. human. [Q9BV36-2]
uc002vwv.3. human. [Q9BV36-3]

Organism-specific databases

CTDi79083.
GeneCardsiGC02P238411.
HGNCiHGNC:29643. MLPH.
HPAiHPA014685.
MIMi606526. gene.
609227. phenotype.
neXtProtiNX_Q9BV36.
Orphaneti79478. Griscelli disease type 3.
PharmGKBiPA134899891.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG135976.
GeneTreeiENSGT00390000013933.
HOGENOMiHOG000089970.
HOVERGENiHBG052454.
InParanoidiQ9BV36.
OMAiRCLQPYR.
OrthoDBiEOG76HQ10.
PhylomeDBiQ9BV36.
TreeFamiTF331599.

Miscellaneous databases

ChiTaRSiMLPH. human.
GeneWikiiMelanophilin.
GenomeRNAii79083.
NextBioi35469778.
PROiQ9BV36.
SOURCEiSearch...

Gene expression databases

BgeeiQ9BV36.
CleanExiHS_MLPH.
ExpressionAtlasiQ9BV36. baseline and differential.
GenevisibleiQ9BV36. HS.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR006788. Myrip/Melanophilin.
IPR010911. Rab_BD.
IPR011011. Znf_FYVE_PHD.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF04698. Rab_eff_C. 1 hit.
[Graphical view]
SUPFAMiSSF57903. SSF57903. 1 hit.
PROSITEiPS50916. RABBD. 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] (ISOFORMS 2; 3; 4 AND 5), VARIANTS ALA-374 AND SER-451.
    Tissue: Kidney, Mammary gland and Tongue.
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    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] (ISOFORMS 1 AND 2).
    Tissue: Kidney and Skin.
  5. "Melanophilin directly links Rab27a and myosin Va through its distinct coiled-coil regions."
    Nagashima K., Torii S., Yi Z., Igarashi M., Okamoto K., Takeuchi T., Izumi T.
    FEBS Lett. 517:233-238(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: MUTAGENESIS OF GLU-14; ARG-24 AND GLU-32, INTERACTION WITH MYO5A AND RAB27A, FUNCTION.
  6. "Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)."
    Menasche G., Ho C.H., Sanal O., Feldmann J., Tezcan I., Ersoy F., Houdusse A., Fischer A., de Saint Basile G.
    J. Clin. Invest. 112:450-456(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT GS3 TRP-35.

Entry informationi

Entry nameiMELPH_HUMAN
AccessioniPrimary (citable) accession number: Q9BV36
Secondary accession number(s): B3KSS2
, B4DKW7, G5E9G5, Q9HA71
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 16, 2003
Last sequence update: June 1, 2001
Last modified: July 22, 2015
This is version 132 of the entry and version 1 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 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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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 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.