1 - 25 of
38
results
for keyword:"Dwarfism [KW-0242]"
in UniProtKB
Browse by
taxonomy,
keyword,
gene ontology,
enzyme class or
pathway |
Reduce sequence redundancy to
100%,
90% or
50% |
 Customize display | Download... |
› Add columns: Keywords
| All | Accession |
Entry name
 | Status |
Protein names
 |
Gene names
|
Organism
|
Length
|
|---|---|---|---|---|---|---|---|
| O00116 | ADAS_HUMAN |  | Alkyldihydroxyacetonephosphate synthase, peroxisomal (Alkyl-DHAP synthase) (EC 2.5.1.26) (Alkylglycerone-phosphate synthase) (Aging-associated gene 5 protein) | AGPS (AAG5) | Homo sapiens (Human) | 658 | |
| P20594 | ANPRB_HUMAN | | Atrial natriuretic peptide receptor B (ANP-B) (ANPRB) (GC-B) (Guanylate cyclase B) (EC 4.6.1.2) (NPR-B) (Atrial natriuretic peptide B-type receptor) | NPR2 (ANPRB) | Homo sapiens (Human) | 1,047 | |
| Q13535 | ATR_HUMAN | | Serine/threonine-protein kinase ATR (EC 2.7.11.1) (Ataxia telangiectasia and Rad3-related protein) (FRAP-related protein 1) | ATR (FRP1) | Homo sapiens (Human) | 2,644 | |
| P02452 | CO1A1_HUMAN | | Collagen alpha-1(I) chain (Alpha-1 type I collagen) | COL1A1 | Homo sapiens (Human) | 1,464 | |
| P08123 | CO1A2_HUMAN | | Collagen alpha-2(I) chain (Alpha-2 type I collagen) | COL1A2 | Homo sapiens (Human) | 1,366 | |
| P02458 | CO2A1_HUMAN | | Collagen alpha-1(II) chain (Alpha-1 type II collagen) [Cleaved into: Chondrocalcin] | COL2A1 | Homo sapiens (Human) | 1,487 | |
| Q14055 | CO9A2_HUMAN | | Collagen alpha-2(IX) chain | COL9A2 | Homo sapiens (Human) | 689 | |
| Q14050 | CO9A3_HUMAN | | Collagen alpha-3(IX) chain | COL9A3 | Homo sapiens (Human) | 684 | |
| P49747 | COMP_HUMAN | | Cartilage oligomeric matrix protein (COMP) (Thrombospondin 5) (TSP5) | COMP | Homo sapiens (Human) | 757 | |
| Q7RTS9 | DYM_HUMAN | | Dymeclin (Dyggve-Melchior-Clausen syndrome protein) | DYM | Homo sapiens (Human) | 669 | |
| Q15125 | EBP_HUMAN | | 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase (EC 5.3.3.5) (Cholestenol Delta-isomerase) (Delta(8)-Delta(7) sterol isomerase) (D8-D7 sterol isomerase) (Emopamil-binding protein) | EBP | Homo sapiens (Human) | 230 | |
| P18074 | ERCC2_HUMAN | | TFIIH basal transcription factor complex helicase subunit (EC 3.6.1.-) (TFIIH basal transcription factor complex p80 subunit) (Basic transcription factor 2 80 kDa subunit) (BTF2-p80) (DNA repair protein complementing XP-D cells) (Xeroderma pigmentosum group D-complementing protein) (CXPD) (DNA excision repair protein ERCC-2) | ERCC2 (XPD) (XPDC) | Homo sapiens (Human) | 760 | |
| P19447 | ERCC3_HUMAN | | TFIIH basal transcription factor complex helicase XPB subunit (EC 3.6.1.-) (Basic transcription factor 2 89 kDa subunit) (BTF2-p89) (TFIIH 89 kDa subunit) (DNA repair protein complementing XP-B cells) (Xeroderma pigmentosum group B-complementing protein) (DNA excision repair protein ERCC-3) | ERCC3 (XPB) (XPBC) | Homo sapiens (Human) | 782 | |
| P28715 | ERCC5_HUMAN | | DNA repair protein complementing XP-G cells (EC 3.1.-.-) (Xeroderma pigmentosum group G-complementing protein) (DNA excision repair protein ERCC-5) | ERCC5 (ERCM2) (XPG) (XPGC) | Homo sapiens (Human) | 1,186 | |
| Q03468 | ERCC6_HUMAN | | DNA excision repair protein ERCC-6 (EC 3.6.1.-) (ATP-dependent helicase ERCC6) (Cockayne syndrome protein CSB) | ERCC6 (CSB) | Homo sapiens (Human) | 1,493 | |
| Q13216 | ERCC8_HUMAN | | DNA excision repair protein ERCC-8 (Cockayne syndrome WD repeat protein CSA) | ERCC8 (CKN1) (CSA) | Homo sapiens (Human) | 396 | |
| P57679 | EVC_HUMAN | | Ellis-van Creveld syndrome protein (DWF-1) | EVC | Homo sapiens (Human) | 992 | |
| P11362 | FGFR1_HUMAN | | Basic fibroblast growth factor receptor 1 (FGFR-1) (bFGF-R) (EC 2.7.10.1) (Fms-like tyrosine kinase 2) (c-fgr) (CD antigen CD331) | FGFR1 (FGFBR) (FLG) (FLT2) | Homo sapiens (Human) | 822 | |
| P22607 | FGFR3_HUMAN | | Fibroblast growth factor receptor 3 (FGFR-3) (EC 2.7.10.1) (CD antigen CD333) | FGFR3 (JTK4) | Homo sapiens (Human) | 806 | |
| O75369 | FLNB_HUMAN | | Filamin-B (FLN-B) (Beta-filamin) (Actin-binding-like protein) (Thyroid autoantigen) (Truncated actin-binding protein) (Truncated ABP) (ABP-280 homolog) (ABP-278) (Filamin 3) (Filamin homolog 1) (Fh1) | FLNB (FLN1L) (FLN3) (TABP) (TAP) | Homo sapiens (Human) | 2,602 | |
| P34059 | GALNS_HUMAN | | N-acetylgalactosamine-6-sulfatase (EC 3.1.6.4) (N-acetylgalactosamine-6-sulfate sulfatase) (Galactose-6-sulfate sulfatase) (GalNAc6S sulfatase) (Chondroitinsulfatase) (Chondroitinase) | GALNS | Homo sapiens (Human) | 522 | |
| P43026 | GDF5_HUMAN | | Growth/differentiation factor 5 (GDF-5) (Cartilage-derived morphogenetic protein 1) (CDMP-1) (Radotermin) | GDF5 (CDMP1) | Homo sapiens (Human) | 501 | |
| Q02092 | GHR_CHICK | | Growth hormone receptor (GH receptor) (Somatotropin receptor) [Cleaved into: Growth hormone-binding protein (GH-binding protein) (GHBP) (Serum-binding protein)] | GHR | Gallus gallus (Chicken) | 608 | |
| P10912 | GHR_HUMAN | | Growth hormone receptor (GH receptor) (Somatotropin receptor) [Cleaved into: Growth hormone-binding protein (GH-binding protein) (GHBP) (Serum-binding protein)] | GHR | Homo sapiens (Human) | 638 | |
| Q02643 | GHRHR_HUMAN | | Growth hormone-releasing hormone receptor (GHRH receptor) (GRF receptor) (GRFR) | GHRHR | Homo sapiens (Human) | 423 |
