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Q9P0V3

- SH3B4_HUMAN

UniProt

Q9P0V3 - SH3B4_HUMAN

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Protein

SH3 domain-binding protein 4

Gene

SH3BP4

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

Functioni

May function in transferrin receptor internalization at the plasma membrane through a cargo-specific control of clathrin-mediated endocytosis. Alternatively, may acts as a negative regulator of the amino acid-induced TOR signaling by inhibiting the formation of active Rag GTPase complexes. Preferentially binds inactive Rag GTPase complexes and prevents their interaction with the mTORC1 complex inhibiting its relocalization to lysosomes and its activation. Thereby, may indirectly regulate cell growth, proliferation and autophagy.2 Publications

GO - Molecular functioni

  1. GDP-dissociation inhibitor activity Source: UniProtKB
  2. identical protein binding Source: IntAct
  3. Ras GTPase binding Source: UniProtKB

GO - Biological processi

  1. cellular response to amino acid stimulus Source: UniProtKB
  2. endocytosis Source: UniProtKB-KW
  3. negative regulation of cell growth Source: UniProtKB
  4. negative regulation of cell proliferation Source: UniProtKB
  5. negative regulation of GTPase activity Source: UniProtKB
  6. negative regulation of TOR signaling Source: UniProtKB
  7. positive regulation of autophagy Source: UniProtKB
  8. protein localization to lysosome Source: UniProtKB
  9. regulation of catalytic activity Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Endocytosis

Names & Taxonomyi

Protein namesi
Recommended name:
SH3 domain-binding protein 4
Alternative name(s):
EH-binding protein 10
Transferrin receptor-trafficking protein
Gene namesi
Name:SH3BP4
Synonyms:BOG25, EHB10, TTP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:10826. SH3BP4.

Subcellular locationi

Membraneclathrin-coated pit. Cytoplasmic vesicleclathrin-coated vesicle. Nucleus Curated
Note: Specifically associated with transferrin receptor-containing clathrin-coated pits and clathrin-coated vesicles. May also localize to the nucleus.

GO - Cellular componenti

  1. coated pit Source: UniProtKB-KW
  2. cytoplasm Source: UniProtKB
  3. cytoplasmic vesicle Source: UniProtKB-KW
  4. extracellular vesicular exosome Source: UniProt
  5. nucleus Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Coated pit, Cytoplasmic vesicle, Membrane, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi92 – 921W → A: Loss of function. Loss of targeting to the clathrin-coated pits and vesicles. Loss of interaction with DNM2, RRAGB and RRAGC. No effect on localization to the plasma membrane. 2 Publications

Organism-specific databases

PharmGKBiPA35734.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 963963SH3 domain-binding protein 4PRO_0000274574Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei131 – 1311Phosphoserine1 Publication
Modified residuei246 – 2461Phosphoserine1 Publication
Modified residuei637 – 6371Phosphoserine1 Publication

Post-translational modificationi

Phosphorylated upon EGF stimulation. Phosphorylation prevents interaction with DNM2.4 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9P0V3.
PaxDbiQ9P0V3.
PRIDEiQ9P0V3.

PTM databases

PhosphoSiteiQ9P0V3.

Expressioni

Tissue specificityi

Expressed in all tissues tested with higher expression in pancreas. Expressed by retinal pigment epithelial cells (at protein level).2 Publications

Gene expression databases

BgeeiQ9P0V3.
CleanExiHS_SH3BP4.
ExpressionAtlasiQ9P0V3. baseline and differential.
GenevestigatoriQ9P0V3.

Organism-specific databases

HPAiHPA037533.

Interactioni

Subunit structurei

Homodimer or homooligomer. Interacts with DNM2, EPS15, clathrin, the adapter protein complex 2/AP-2 and TFRC. Interacts with the Rag GTPases RRAGA, RRAGB, RRAGC and RRAGD; the interaction is most probably direct, preferentially occurs with their inactive GDP-bound form and is negatively regulated by amino acids.3 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-1049513,EBI-1049513
CIZ1Q9ULV32EBI-1049513,EBI-2652948
DNM2P505703EBI-1049513,EBI-346547
Dnm2P390525EBI-1049513,EBI-349613From a different organism.
PLEKHA1Q9HB212EBI-1049513,EBI-2652984
TFRCP027866EBI-1049513,EBI-355727

Protein-protein interaction databases

BioGridi117194. 34 interactions.
IntActiQ9P0V3. 29 interactions.
MINTiMINT-1649163.
STRINGi9606.ENSP00000340237.

Structurei

3D structure databases

ProteinModelPortaliQ9P0V3.
SMRiQ9P0V3. Positions 61-112.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini55 – 11460SH3PROSITE-ProRule annotationAdd
BLAST

Domaini

The SH3 domain mediates localization to the clathrin-coated pits and vesicles. The SH3 domain mediates interaction with DNM2 and the cytoplasmic part of TFRC with a lower affinity. The SH3 domain also mediates interaction with RRAGB, RRAGC and is required for the negative regulation of mTORC1.

Sequence similaritiesi

Contains 1 SH3 domain.PROSITE-ProRule annotation

Keywords - Domaini

SH3 domain

Phylogenomic databases

eggNOGiNOG46295.
GeneTreeiENSGT00390000013151.
HOGENOMiHOG000015297.
HOVERGENiHBG057439.
InParanoidiQ9P0V3.
OMAiFFCRAEL.
OrthoDBiEOG7GJ6C4.
PhylomeDBiQ9P0V3.
TreeFamiTF105572.

Family and domain databases

InterProiIPR011511. SH3_2.
IPR001452. SH3_domain.
IPR000906. ZU5_dom.
[Graphical view]
PfamiPF07653. SH3_2. 1 hit.
PF14604. SH3_9. 1 hit.
PF00791. ZU5. 1 hit.
[Graphical view]
SMARTiSM00326. SH3. 1 hit.
[Graphical view]
SUPFAMiSSF50044. SSF50044. 1 hit.
PROSITEiPS50002. SH3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9P0V3-1) [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
MAAQRIRAAN SNGLPRCKSE GTLIDLSEGF SETSFNDIKV PSPSALLVDN
60 70 80 90 100
PTPFGNAKEV IAIKDYCPTN FTTLKFSKGD HLYVLDTSGG EWWYAHNTTE
110 120 130 140 150
MGYIPSSYVQ PLNYRNSTLS DSGMIDNLPD SPDEVAKELE LLGGWTDDKK
160 170 180 190 200
VPGRMYSNNP FWNGVQTNPF LNGNVPVMPS LDELNPKSTV DLLLFDAGTS
210 220 230 240 250
SFTESSSATT NSTGNIFDEL PVTNGLHAEP PVRRDNPFFR SKRSYSLSEL
260 270 280 290 300
SVLQAKSDAP TSSSFFTGLK SPAPEQFQSR EDFRTAWLNH RKLARSCHDL
310 320 330 340 350
DLLGQSPGWG QTQAVETNIV CKLDSSGGAV QLPDTSISIH VPEGHVAPGE
360 370 380 390 400
TQQISMKALL DPPLELNSDR SCSISPVLEV KLSNLEVKTS IILEMKVSAE
410 420 430 440 450
IKNDLFSKST VGLQCLRSDS KEGPYVSVPL NCSCGDTVQA QLHNLEPCMY
460 470 480 490 500
VAVVAHGPSI LYPSTVWDFI NKKVTVGLYG PKHIHPSFKT VVTIFGHDCA
510 520 530 540 550
PKTLLVSEVT RQAPNPAPVA LQLWGKHQFV LSRPQDLKVC MFSNMTNYEV
560 570 580 590 600
KASEQAKVVR GFQLKLGKVS RLIFPITSQN PNELSDFTLR VQVKDDQEAI
610 620 630 640 650
LTQFCVQTPQ PPPKSAIKPS GQRRFLKKNE VGKIILSPFA TTTKYPTFQD
660 670 680 690 700
RPVSSLKFGK LLKTVVRQNK NHYLLEYKKG DGIALLSEER VRLRGQLWTK
710 720 730 740 750
EWYIGYYQGR VGLVHTKNVL VVGRARPSLC SGPELSTSVL LEQILRPCKF
760 770 780 790 800
LTYIYASVRT LLMENISSWR SFADALGYVN LPLTFFCRAE LDSEPERVAS
810 820 830 840 850
VLEKLKEDCN NTENKERKSF QKELVMALLK MDCQGLVVRL IQDFVLLTTA
860 870 880 890 900
VEVAQRWREL AEKLAKVSKQ QMDAYESPHR DRNGVVDSEA MWKPAYDFLL
910 920 930 940 950
TWSHQIGDSY RDVIQELHLG LDKMKNPITK RWKHLTGTLI LVNSLDVLRA
960
AAFSPADQDD FVI
Length:963
Mass (Da):107,496
Last modified:October 1, 2000 - v1
Checksum:i7F98200AC420F3D5
GO
Isoform 2 (identifier: Q9P0V3-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     515-925: Missing.

Note: No experimental confirmation available. Dubious isoform produced through aberrant splice sites.

Show »
Length:552
Mass (Da):60,337
Checksum:i1C9C5ABE339BFD7D
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti235 – 2351D → N in ABB18377. (PubMed:16325581)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti155 – 1551M → T.1 Publication
Corresponds to variant rs3731644 [ dbSNP | Ensembl ].
VAR_030330
Natural varianti197 – 1971A → T.1 Publication
Corresponds to variant rs3731646 [ dbSNP | Ensembl ].
VAR_030331

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei515 – 925411Missing in isoform 2. 1 PublicationVSP_022823Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF147747 mRNA. Translation: AAF33022.1.
DQ232895 mRNA. Translation: ABB18377.1.
AC010148 Genomic DNA. Translation: AAY14916.1.
AC114814 Genomic DNA. Translation: AAY24025.1.
BC057396 mRNA. Translation: AAH57396.1.
AF015043 mRNA. Translation: AAD01551.1.
CCDSiCCDS2513.1. [Q9P0V3-1]
RefSeqiNP_055336.1. NM_014521.2. [Q9P0V3-1]
UniGeneiHs.516777.

Genome annotation databases

EnsembliENST00000344528; ENSP00000340237; ENSG00000130147. [Q9P0V3-1]
ENST00000392011; ENSP00000375867; ENSG00000130147. [Q9P0V3-1]
ENST00000409212; ENSP00000386862; ENSG00000130147. [Q9P0V3-1]
GeneIDi23677.
KEGGihsa:23677.
UCSCiuc002vvp.3. human. [Q9P0V3-1]

Polymorphism databases

DMDMi74753102.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF147747 mRNA. Translation: AAF33022.1 .
DQ232895 mRNA. Translation: ABB18377.1 .
AC010148 Genomic DNA. Translation: AAY14916.1 .
AC114814 Genomic DNA. Translation: AAY24025.1 .
BC057396 mRNA. Translation: AAH57396.1 .
AF015043 mRNA. Translation: AAD01551.1 .
CCDSi CCDS2513.1. [Q9P0V3-1 ]
RefSeqi NP_055336.1. NM_014521.2. [Q9P0V3-1 ]
UniGenei Hs.516777.

3D structure databases

ProteinModelPortali Q9P0V3.
SMRi Q9P0V3. Positions 61-112.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117194. 34 interactions.
IntActi Q9P0V3. 29 interactions.
MINTi MINT-1649163.
STRINGi 9606.ENSP00000340237.

PTM databases

PhosphoSitei Q9P0V3.

Polymorphism databases

DMDMi 74753102.

Proteomic databases

MaxQBi Q9P0V3.
PaxDbi Q9P0V3.
PRIDEi Q9P0V3.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000344528 ; ENSP00000340237 ; ENSG00000130147 . [Q9P0V3-1 ]
ENST00000392011 ; ENSP00000375867 ; ENSG00000130147 . [Q9P0V3-1 ]
ENST00000409212 ; ENSP00000386862 ; ENSG00000130147 . [Q9P0V3-1 ]
GeneIDi 23677.
KEGGi hsa:23677.
UCSCi uc002vvp.3. human. [Q9P0V3-1 ]

Organism-specific databases

CTDi 23677.
GeneCardsi GC02P235876.
HGNCi HGNC:10826. SH3BP4.
HPAi HPA037533.
MIMi 605611. gene.
neXtProti NX_Q9P0V3.
PharmGKBi PA35734.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG46295.
GeneTreei ENSGT00390000013151.
HOGENOMi HOG000015297.
HOVERGENi HBG057439.
InParanoidi Q9P0V3.
OMAi FFCRAEL.
OrthoDBi EOG7GJ6C4.
PhylomeDBi Q9P0V3.
TreeFami TF105572.

Miscellaneous databases

ChiTaRSi SH3BP4. human.
GeneWikii SH3BP4.
GenomeRNAii 23677.
NextBioi 46541.
PROi Q9P0V3.
SOURCEi Search...

Gene expression databases

Bgeei Q9P0V3.
CleanExi HS_SH3BP4.
ExpressionAtlasi Q9P0V3. baseline and differential.
Genevestigatori Q9P0V3.

Family and domain databases

InterProi IPR011511. SH3_2.
IPR001452. SH3_domain.
IPR000906. ZU5_dom.
[Graphical view ]
Pfami PF07653. SH3_2. 1 hit.
PF14604. SH3_9. 1 hit.
PF00791. ZU5. 1 hit.
[Graphical view ]
SMARTi SM00326. SH3. 1 hit.
[Graphical view ]
SUPFAMi SSF50044. SSF50044. 1 hit.
PROSITEi PS50002. SH3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning, chromosomal localization, and characterization of cDNA from a novel gene, SH3BP4, expressed by human corneal fibroblasts."
    Dunlevy J.R., Berryhill B.L., Vergnes J.-P., SundarRaj N., Hassell J.R.
    Genomics 62:519-524(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY.
    Tissue: Corneal fibroblast.
  2. "TTP specifically regulates the internalization of the transferrin receptor."
    Tosoni D., Puri C., Confalonieri S., Salcini A.E., De Camilli P., Tacchetti C., Di Fiore P.P.
    Cell 123:875-888(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION IN ENDOCYTOSIS, INTERACTION WITH AP-2; CLATHRIN; DNM2; EPS15 AND TFRC, OLIGOMERIZATION, PHOSPHORYLATION, SUBCELLULAR LOCATION, MUTAGENESIS OF TRP-92, VARIANTS THR-155 AND THR-197.
    Tissue: Placenta.
  3. "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].
  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] (ISOFORM 1).
    Tissue: Eye.
  5. "Binding specificity and in vivo targets of the EH domain, a novel protein-protein interaction module."
    Salcini A.E., Confalonieri S., Doria M., Santolini E., Tassi E., Minenkova O., Cesareni G., Pelicci P.G., Di Fiore P.P.
    Genes Dev. 11:2239-2249(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 74-963 (ISOFORM 2), INTERACTION WITH EPS15.
    Tissue: Fibroblast.
  6. "Nuclear and plasma membrane localization of SH3BP4 in retinal pigment epithelial cells."
    Khanobdee K., Kolberg J.B., Dunlevy J.R.
    Mol. Vis. 10:933-942(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  7. "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
    Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
    Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
    Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
    Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-131, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-246, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-637, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  11. "SH3BP4 is a negative regulator of amino acid-Rag GTPase-mTORC1 signaling."
    Kim Y.M., Stone M., Hwang T.H., Kim Y.G., Dunlevy J.R., Griffin T.J., Kim D.H.
    Mol. Cell 46:833-846(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN MTORC1 SIGNALING, INTERACTION WITH RRAGA; RRAGB; RRAGC AND RRAGD, MUTAGENESIS OF TRP-92.

Entry informationi

Entry nameiSH3B4_HUMAN
AccessioniPrimary (citable) accession number: Q9P0V3
Secondary accession number(s): O95082
, Q309A3, Q53QD0, Q53TD1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: October 1, 2000
Last modified: October 29, 2014
This is version 104 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

Miscellaneous

Overexpression or depletion of SH3BP4 result in a specific decrease of the transferrin receptor endocytosis that can be rescued by DNM2 overexpression.

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