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Q9BV36

- MELPH_HUMAN

UniProt

Q9BV36 - MELPH_HUMAN

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Protein
Melanophilin
Gene
MLPH, SLAC2A
Organism
Homo sapiens (Human)
Status
Reviewed - 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-type
Add
BLAST

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW

GO - Biological processi

  1. melanocyte differentiation Source: Ensembl
  2. melanosome localization Source: Ensembl
  3. protein targeting Source: Ensembl
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: Chromosome 2

Organism-specific databases

HGNCiHGNC:29643. MLPH.

Subcellular locationi

GO - Cellular componenti

  1. cortical actin cytoskeleton Source: Ensembl
  2. microtubule organizing center Source: Ensembl
  3. microtubule plus-end Source: Ensembl
  4. stress fiber Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Griscelli syndrome 3 (GS3) [MIM:609227]: Rare 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 600600Melanophilin
PRO_0000190222Add
BLAST

Proteomic databases

MaxQBiQ9BV36.
PaxDbiQ9BV36.
PRIDEiQ9BV36.

PTM databases

PhosphoSiteiQ9BV36.

Expressioni

Gene expression databases

ArrayExpressiQ9BV36.
BgeeiQ9BV36.
CleanExiHS_MLPH.
GenevestigatoriQ9BV36.

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.

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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini4 – 124121RabBD
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili373 – 496124 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Coiled coil, Repeat, Zinc-finger

Phylogenomic databases

eggNOGiNOG135976.
HOGENOMiHOG000089970.
HOVERGENiHBG052454.
InParanoidiQ9BV36.
OMAiHCARCLQ.
OrthoDBiEOG76HQ10.
PhylomeDBiQ9BV36.
TreeFamiTF331599.

Family and domain databases

Gene3Di3.30.40.10. 1 hit.
InterProiIPR006788. Myrip/Melanophilin.
IPR010911. Znf_FYVE-typ.
IPR011011. Znf_FYVE_PHD.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view]
PfamiPF02318. FYVE_2. 1 hit.
PF04698. 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. Align

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

MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR    50
ELLSDTAHLN ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ 100
GWICDPCHLA RVVKIGSLEW YYEHVKARFK RFGSAKVIRS LHGRLQGGAG 150
PELISEERSG DSDQTDEDGE PGSEAQAQAQ PFGSKKKRLL SVHDFDFEGD 200
SDDSTQPQGH SLHLSSVPEA RDSPQSLTDE SCSEKAAPHK AEGLEEADTG 250
ASGCHSHPEE QPTSISPSRH GALAELCPPG GSHRMALGTA AALGSNVIRN 300
EQLPLQYLAD VDTSDEESIR AHVMASHHSK RRGRASSESQ IFELNKHISA 350
VECLLTYLEN TVVPPLAKGL GAGVRTEADV EEEALRRKLE ELTSNVSDQE 400
TSSEEEEAKD EKAEPNRDKS VGPLPQADPE VGTAAHQTNR QEKSPQDPGD 450
PVQYNRTTDE ELSELEDRVA VTASEVQQAE SEVSDIESRI AALRAAGLTV 500
KPSGKPRRKS NLPIFLPRVA GKLGKRPEDP NADPSSEAKA MAVPYLLRRK 550
FSNSLKSQGK DDDSFDRKSV YRGSLTQRNP NARKGMASHT FAKPVVAHQS 600
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

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.
Corresponds to variant rs58256353 [ dbSNP | Ensembl ].
VAR_061754

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei186 – 22540Missing in isoform 3.
VSP_042158Add
BLAST
Alternative sequencei226 – 368143Missing in isoform 5.
VSP_055730Add
BLAST
Alternative sequencei341 – 36828Missing in isoform 2 and isoform 3.
VSP_007554Add
BLAST
Alternative sequencei430 – 48152Missing in isoform 3.
VSP_042159Add
BLAST
Alternative sequencei514 – 55138IFLPR…LRRKF → ALYEGTLSLCSEDLKHTHPD SVKSKRSRLNHVASCGNP in isoform 4.
VSP_054367Add
BLAST
Alternative sequencei552 – 60049Missing in isoform 4.
VSP_054368Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti109 – 1091L → P in BAB13984. 1 Publication
Sequence conflicti143 – 1431G → R in BAG52834. 1 Publication
Sequence conflicti253 – 2531G → R in AK225381. 1 Publication
Sequence conflicti577 – 5771Q → R in BAB13984. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
CCDS63173.1. [Q9BV36-3]
RefSeqiNP_001035932.1. NM_001042467.2. [Q9BV36-2]
NP_001268402.1. NM_001281473.1. [Q9BV36-3]
NP_077006.1. NM_024101.6. [Q9BV36-1]
XP_006712801.1. XM_006712738.1. [Q9BV36-4]
UniGeneiHs.102406.

Genome annotation databases

EnsembliENST00000264605; ENSP00000264605; ENSG00000115648. [Q9BV36-1]
ENST00000338530; ENSP00000341845; ENSG00000115648. [Q9BV36-2]
ENST00000409373; ENSP00000386780; ENSG00000115648. [Q9BV36-3]
ENST00000410032; ENSP00000386338; ENSG00000115648.
ENST00000445024; ENSP00000414849; ENSG00000115648.
GeneIDi79083.
KEGGihsa:79083.
UCSCiuc002vwt.3. human. [Q9BV36-1]
uc002vwu.3. human. [Q9BV36-2]
uc002vwv.3. human. [Q9BV36-3]

Polymorphism databases

DMDMi32129730.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

MLPHbase

MLPH mutation db

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS2518.1. [Q9BV36-1 ]
CCDS42836.1. [Q9BV36-2 ]
CCDS63173.1. [Q9BV36-3 ]
RefSeqi NP_001035932.1. NM_001042467.2. [Q9BV36-2 ]
NP_001268402.1. NM_001281473.1. [Q9BV36-3 ]
NP_077006.1. NM_024101.6. [Q9BV36-1 ]
XP_006712801.1. XM_006712738.1. [Q9BV36-4 ]
UniGenei Hs.102406.

3D structure databases

ProteinModelPortali Q9BV36.
SMRi Q9BV36. Positions 4-144.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122531. 8 interactions.
DIPi DIP-44046N.
IntActi Q9BV36. 2 interactions.
MINTi MINT-3388002.
STRINGi 9606.ENSP00000264605.

PTM databases

PhosphoSitei Q9BV36.

Polymorphism databases

DMDMi 32129730.

Proteomic databases

MaxQBi Q9BV36.
PaxDbi Q9BV36.
PRIDEi Q9BV36.

Protocols and materials databases

DNASUi 79083.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000264605 ; ENSP00000264605 ; ENSG00000115648 . [Q9BV36-1 ]
ENST00000338530 ; ENSP00000341845 ; ENSG00000115648 . [Q9BV36-2 ]
ENST00000409373 ; ENSP00000386780 ; ENSG00000115648 . [Q9BV36-3 ]
ENST00000410032 ; ENSP00000386338 ; ENSG00000115648 .
ENST00000445024 ; ENSP00000414849 ; ENSG00000115648 .
GeneIDi 79083.
KEGGi hsa:79083.
UCSCi uc002vwt.3. human. [Q9BV36-1 ]
uc002vwu.3. human. [Q9BV36-2 ]
uc002vwv.3. human. [Q9BV36-3 ]

Organism-specific databases

CTDi 79083.
GeneCardsi GC02P238411.
HGNCi HGNC:29643. MLPH.
HPAi HPA014685.
MIMi 606526. gene.
609227. phenotype.
neXtProti NX_Q9BV36.
Orphaneti 79478. Griscelli disease type 3.
PharmGKBi PA134899891.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG135976.
HOGENOMi HOG000089970.
HOVERGENi HBG052454.
InParanoidi Q9BV36.
OMAi HCARCLQ.
OrthoDBi EOG76HQ10.
PhylomeDBi Q9BV36.
TreeFami TF331599.

Miscellaneous databases

ChiTaRSi MLPH. human.
GeneWikii Melanophilin.
GenomeRNAii 79083.
NextBioi 35472891.
PROi Q9BV36.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q9BV36.
Bgeei Q9BV36.
CleanExi HS_MLPH.
Genevestigatori Q9BV36.

Family and domain databases

Gene3Di 3.30.40.10. 1 hit.
InterProi IPR006788. Myrip/Melanophilin.
IPR010911. Znf_FYVE-typ.
IPR011011. Znf_FYVE_PHD.
IPR013083. Znf_RING/FYVE/PHD.
[Graphical view ]
Pfami PF02318. FYVE_2. 1 hit.
PF04698. Rab_eff_C. 1 hit.
[Graphical view ]
SUPFAMi SSF57903. SSF57903. 1 hit.
PROSITEi PS50916. RABBD. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: September 3, 2014
This is version 125 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

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