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edit Heart and neural crest derivatives expressed 1 Identifiers Symbols HAND1; Hxt; Thing1; eHand External IDs OMIM: 602406 MGI: 103577 HomoloGene: 3545 GeneCards: HAND1 Gene Gene Ontology Molecular function • transcription factor activity • transcription factor binding • transcription repressor activity • protein homodimerization activity • protein heterodimerization activity Cellular component • nucleus Biological process • negative regulation of transcription from RNA polymerase II promoter • angiogenesis • regulation of transcription, DNA-dependent • transcription from RNA polymerase II promoter • multicellular organismal development • heart development • cell differentiation • positive regulation of transcription from RNA polymerase II promoter Sources: Amigo / QuickGO RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 9421 15110 Ensembl ENSG00000113196 ENSMUSG00000037335 UniProt O96004 Q5SQG0 RefSeq (mRNA) NM_004821 NM_008213 RefSeq (protein) NP_004812 NP_032239 Location (UCSC) Chr 5: 153.83 - 153.84 Mb Chr 11: 57.64 - 57.65 Mb PubMed search [1] [2] Heart- and neural crest derivatives-expressed protein 1 is a protein that in humans is encoded by the HAND1 gene.[1][2][3] The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation.[3] References ^ Russell MW, Baker P, Izumo S (Jan 1998). "Cloning, chromosomal mapping, and expression of the human eHAND gene". Mamm Genome 8 (11): 863–5. doi:10.1007/s003359900596. PMID 9337404.  ^ Knofler M, Meinhardt G, Vasicek R, Husslein P, Egarter C (Feb 1999). "Molecular cloning of the human Hand1 gene/cDNA and its tissue-restricted expression in cytotrophoblastic cells and heart". Gene 224 (1-2): 77–86. doi:10.1016/S0378-1119(98)00511-3. PMID 9931445.  ^ a b "Entrez Gene: HAND1 heart and neural crest derivatives expressed 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9421.  Further reading Srivastava D (1999). "HAND proteins: molecular mediators of cardiac development and congenital heart disease.". Trends Cardiovasc. Med. 9 (1-2): 11–8. doi:10.1016/S1050-1738(98)00033-4. PMID 10189962.  Weber MC, de Clarke V, Harwin RM, Shiff CJ (1976). "An extended field trial of pyrimethamine combined with dapsone in the prophylaxis of malaria.". The Central African journal of medicine 21 (9): 187–92. PMID 1182795.  Cross SH, Charlton JA, Nan X, Bird AP (1994). "Purification of CpG islands using a methylated DNA binding column.". Nat. Genet. 6 (3): 236–44. doi:10.1038/ng0394-236. PMID 8012384.  Scott IC, Anson-Cartwright L, Riley P, et al. (2000). "The HAND1 basic helix-loop-helix transcription factor regulates trophoblast differentiation via multiple mechanisms.". Mol. Cell. Biol. 20 (2): 530–41. doi:10.1128/MCB.20.2.530-541.2000. PMID 10611232.  Bounpheng MA, Morrish TA, Dodds SG, Christy BA (2000). "Negative regulation of selected bHLH proteins by eHAND.". Exp. Cell Res. 257 (2): 320–31. doi:10.1006/excr.2000.4898. PMID 10837146.  Firulli BA, Hadzic DB, McDaid JR, Firulli AB (2000). "The basic helix-loop-helix transcription factors dHAND and eHAND exhibit dimerization characteristics that suggest complex regulation of function.". J. Biol. Chem. 275 (43): 33567–73. doi:10.1074/jbc.M005888200. PMID 10924525.  Knöfler M, Meinhardt G, Bauer S, et al. (2002). "Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains.". Biochem. J. 361 (Pt 3): 641–51. doi:10.1042/0264-6021:3610641. PMID 11802795.  Dai YS, Cserjesi P (2002). "The basic helix-loop-helix factor, HAND2, functions as a transcriptional activator by binding to E-boxes as a heterodimer.". J. Biol. Chem. 277 (15): 12604–12. doi:10.1074/jbc.M200283200. PMID 11812799.  Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.  Srivastava D, Gottlieb PD, Olson EN (2003). "Molecular mechanisms of ventricular hypoplasia.". Cold Spring Harb. Symp. Quant. Biol. 67: 121–5. doi:10.1101/sqb.2002.67.121. PMID 12858532.  Firulli BA, Howard MJ, McDaid JR, et al. (2004). "PKA, PKC, and the protein phosphatase 2A influence HAND factor function: a mechanism for tissue-specific transcriptional regulation.". Mol. Cell 12 (5): 1225–37. doi:10.1016/S1097-2765(03)00425-8. PMID 14636580.  Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.  Hill AA, Riley PR (2004). "Differential regulation of Hand1 homodimer and Hand1-E12 heterodimer activity by the cofactor FHL2.". Mol. Cell. Biol. 24 (22): 9835–47. doi:10.1128/MCB.24.22.9835-9847.2004. PMID 15509787.  Morin S, Pozzulo G, Robitaille L, et al. (2005). "MEF2-dependent recruitment of the HAND1 transcription factor results in synergistic activation of target promoters.". J. Biol. Chem. 280 (37): 32272–8. doi:10.1074/jbc.M507640200. PMID 16043483.  External links MeSH HAND1+protein,+human This article on a gene on chromosome 5 is a stub. You can help Wikipedia by expanding it. v • d • e This article incorporates text from the United States National Library of Medicine, which is in the public domain. v • d • e Transcription factors and intracellular receptors   (1) Basic domains (1.1) Basic leucine zipper (bZIP) Activating transcription factor (AATF, 1, 2, 3, 4, 5, 6, 7) · AP-1 (c-Fos, FOSB, FOSL1, FOSL2, c-Jun, JUNB, JUND) · BACH (1, 2) · BATF · BLZF1 · C/EBP (α, β, γ, δ, ε, ζ) · CREB (1, 3, L1) · CREM · DBP · DDIT3 · GABPA · HLF · MAF (B, F, G, K) · NFE (2, L1, L2, L3) · NFIL3 · NRL · NRF (1, 2, 3) · XBP1 (1.2) Basic helix-loop-helix (bHLH) ATOH1 · AhR · AHRR · ARNT · ASCL1 · BHLHB2 · BMAL (ARNTL, ARNTL2) · CLOCK · EPAS1 · FIGLA · HAND (1, 2) · HES (5, 6) · HEY (1, 2, L) · HES1 · HIF (1A, 3A) · ID (1, 2, 3, 4) · LYL1 · MESP2 · MXD4 · MYCL1 · MYCN · Myogenic regulatory factors (MyoD, Myogenin, MYF5, MYF6) · Neurogenins (1, 2, 3) · NeuroD (1, 2) · NPAS (1, 2, 3) · OLIG (1, 2) · Pho4 · Scleraxis · TAL (1, 2) · Twist · USF1 (1.3) bHLH-ZIP AP-4 · MAX · MITF · MNT · MLX · MXI1 · Myc · SREBP (1, 2) (1.4) NF-1 NFI (A, B, C, X) · SMAD (R-SMAD (1, 2, 3, 5, 9) - I-SMAD (6, 7) - 4) (1.5) RF-X RFX (1, 2, 3, 4, 5, ANK) (1.6) Basic helix-span-helix (bHSH) AP-2 (α, β, γ, δ, ε)   (2) Zinc finger DNA-binding domains (2.1) Nuclear receptor (Cys4) subfamily 1 (Thyroid hormone (α, β), CAR, FXR, LXR (α, β), PPAR (α, β/δ, γ), PXR, RAR (α, β, γ), ROR (α, β, γ), Rev-ErbA (α, β), VDR) subfamily 2 (COUP-TF (I, II), Ear-2, HNF4 (α, γ), PNR, RXR (α, β, γ), Testicular receptor (2, 4), TLX) subfamily 3 (Steroid hormone (Androgen, Estrogen (α, β), Glucocorticoid, Mineralocorticoid, Progesterone), Estrogen related (α, β, γ)) subfamily 4 NUR (NGFIB, NOR1, NURR1) · subfamily 5 (LRH-1, SF1) · subfamily 6 (GCNF) · subfamily 0 (DAX1, SHP) (2.2) Other Cys4 GATA (1, 2, 3, 4, 5, 6) · MTA (1, 2, 3) · TRPS1 (2.3) Cys2His2 General transcription factors (TFIIA, TFIIB, TFIID, TFIIE, TFIIF (1, 2), TFIIH (1, 2, 4, 2I, 3A, 3C1, 3C2)) ATBF1 · BCL (6, 11A, 11B) · CTCF · E4F1 · EGR (2, 3) · ERV3 · GFI1 · GLI-Krüppel family (1, 2, 3, REST, S2, YY1) · HIC (1, 2) · HIVEP (1, 2, 3) · IKZF (1, 2, 3) · ILF (2, 3) · KLF (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 17) · MTF1 · MYT1 · OSR1 · SALL (1, 2, 3, 4) · SP (1, 2, 4, 7) · WT1 · Zbtb7 (7A, 7B) · ZBTB (16, 17, 20, 32, 33, 40) · zinc finger (3, 7, 9, 10, 19, 22, 24, 33B, 34, 35, 41, 43, 44, 51, 74, 143, 146, 148, 165, 202, 217, 219, 238, 239, 259, 267, 268, 281, 295, 318, 330, 346, 350, 365, 366, 384, 423, 451, 452, 471, 593, 638, 649, 655) (2.4) Cys6 HIVEP1 (2.5) Alternating composition AIRE · DIDO1 · GRLF1 · ING (1, 2, 4) · JARID (1A, 1B, 1C, 1D, 2) · JMJD1B   (3) Helix-turn-helix domains (3.1) Homeodomain ARX · CDX (1, 2) · CRX · CUTL1 · DBX (1, 2)  · DLX (3, 4, 5) · EMX2 · EN (1, 2) · FHL (1, 2, 3) · HESX1 · HHEX · HLX · Homeobox (A1, A2, A3, A4, A5, A7, A9, A10, A11, A13, B1, B2, B3, B4, B5, B6, B7, B8, B9, B13, C4, C5, C6, C8, C9, C10, C11, C13, D1, D3, D4, D8, D9, D10, D11, D12, D13) · HOPX · IRX (1, 2, 3, 4, 5, 6, MKX) · LMX (1A, 1B) · MEIS (1, 2) · MEOX2 · MNX1 · MSX (1, 2) · NANOG · NKX (2-1, 2-2, 2-3, 2-5, 3-1, 3-2, 6-1, 6-2) · NOBOX · PBX (1, 2, 3) · PHF (1, 3, 6, 8, 10, 16, 17, 20, 21A) · PHOX (2A, 2B)  · PITX (1, 2, 3) · POU domain (PIT-1, BRN-3: A, B, C, Octamer transcription factor: 1, 2, 3/4, 6, 7, 11) · OTX (1, 2) · PDX1 · SATB2 · VAX1 · ZEB (1, 2) (3.2) Paired box PAX (1, 2, 3, 4, 5, 6, 7, 8, 9) (3.3) Fork head / winged helix E2F (1, 2, 3, 4, 5) · FOX proteins (A1, A2, A3, C1, C2, D3, D4, E1, F1, G1, H1, J2, K1, K2, L2, M1, N1, N3, O1, O3, O4, P1, P2, P3, P4) (3.4) Heat Shock Factors HSF (1, 2, 4) (3.5) Tryptophan clusters ELF (2, 4, 5) · EGF · ELK (1, 3, 4) · ERF · ERG · ETS (1, 2, SPIB) · ETV (1, 4, 5, 6) · FLI1 · Interferon regulatory factors (1, 2, 3, 4, 5, 6, 7, 8) · MYB · MYBL2 (3.6) TEA domain transcriptional enhancer factor (1, 2, 3, 4)   (4) β-Scaffold factors with minor groove contacts (4.1) Rel homology region NF-κB (NFKB1, NFKB2, REL, RELA, RELB) · NFAT (C1, C2, C3, C4, 5) (4.2) STAT STAT (1, 2, 3, 4, 5, 6) (4.3) p53 p53 · TBX (1, 2, 3, 5, 19, 21, 22, Brachyury, TBR1) (4.4) MADS box Mef2 (A, B, C, D) · SRF (4.6) TATA binding proteins TBP · TBPL1 (4.7) High mobility group HMGB (1, 2, 3, 4) · HMGN (1, 2, 3, 4)  · HNF (1A, 1B) · LEF1 · SOX (1, 2, 3, 4, 5, 6, 8, 9, 10, 11, 12, 13, 14, 15, 18, 21) · SRY · SSRP1 · TCF (3, 4) · TOX (1, 2, 3, 4) (4.10) Cold-shock domain CSDA, YBX1 (4.11) Runt CBF (CBFA2T2, CBFA2T3, RUNX1, RUNX2, RUNX3, RUNX1T1)   (0) Other transcription factors (0.2) HMGI(Y) HMGA (1, 2) · HBP1 (0.3) Pocket domain Rb · RBL1 · RBL2 (0.5) AP-2/EREBP-related factors Apetala 2 · EREBP · B3 (0.6) Miscellaneous ARID (1A, 1B, 2, 3A, 3B, 4A) · CAP · IFI (16, 35) · MLL (2, 3, T1) · MNDA · NFY (A, B, C) · Rho/Sigma see also transcription factor/coregulator deficiencies B bsyn: dna (repl, cycl, reco, repr) · tscr (fact, tcrg, nucl, rnat, rept, ptts) · tltn (risu, pttl, nexn) · dnab, rnab/runp · stru (domn, 1°, 2°, 3°, 4°)