Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMCHD1)

Homo sapiens — UniProt A6NHR9

Gene: SMCHD1Homo sapiensSwissProt reviewed

Data last refreshed: 2026-04-18 (UniProt release unknown)

Key facts

Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMCHD1) is a protein from Homo sapiens identified by UniProt accession A6NHR9, 2005 residues long. MolForge cross-references it against 0 known binders and 92 disease associations.

UniProt accession: A6NHR9; gene symbol SMCHD1.
Organism: Homo sapiens.
Length: 2005 amino acids.
Top disease associations (Open Targets): arhinia, choanal atresia, and microphthalmia, facioscapulohumeral muscular dystrophy 2 and Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism.
3D structure: AlphaFold model available.

Target properties

Protein name	Structural maintenance of chromosomes flexible hinge domain-containing protein 1
UniProt accession	A6NHR9
Gene	SMCHD1
Organism	Homo sapiens
Length	2005 residues
Molecular weight	—
EC numbers	—
Target class	—
Subcellular location	—
Keywords	—

Druggability

Target tractability assessment (Open Targets + pocket analysis). No approved drug

Druggability tier	MEDIUM
Druggability score	—
Pocket score	—
Max clinical phase	—

Disease associations (92)

Diseases linked to this target (Open Targets).

arhinia, choanal atresia, and microphthalmia · score 0.79
facioscapulohumeral muscular dystrophy 2 · score 0.78
Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism · score 0.72
Arrhinia - choanal atresia - microphthalmia · score 0.72
Facioscapulohumeral dystrophy · score 0.71
neurodegenerative disease · score 0.49
Scapulohumeral muscular dystrophy · score 0.47
Abnormality of the musculature · score 0.43
genetic disorder · score 0.42
Anosmia · score 0.42

3D Structure (1)

Experimental (PDB) and predicted (AlphaFold) structures for this protein.

Structure	Source	Method	Mean pLDDT	Resolution (Å)
AF-A6NHR9-F1	alphafold	PREDICTED	80.78	—

Experimental structures are not indexed in MolForge yet — search RCSB PDB for A6NHR9.

Amino-acid sequence (2005 residues)

MAAADGGGPG GASVGTEEDG GGVGHRTVYL FDRREKESEL GDRPLQVGER SDYAGFRACV CQTLGISPEE KFVITTTSRK EITCDNFDET VKDGVTLYLL QSVNQLLLTA TKERIDFLPH YDTLVKSGMY EYYASEGQNP LPFALAELID NSLSATSRNI GVRRIQIKLL FDETQGKPAV AVIDNGRGMT SKQLNNWAVY RLSKFTRQGD FESDHSGYVR PVPVPRSLNS DISYFGVGGK QAVFFVGQSA RMISKPADSQ DVHELVLSKE DFEKKEKNKE AIYSGYIRNR KPSDSVHITN DDERFLHHLI IEEKEKDSFT AVVITGVQPE HIQYLKNYFH LWTRQLAHIY HYYIHGPKGN EIRTSKEVEP FNNIDIEISM FEKGKVPKIV NLREIQDDMQ TLYVNTAADS FEFKAHVEGD GVVEGIIRYH PFLYDRETYP DDPCFPSKLK DEDDEDDCFI LEKAARGKRP IFECFWNGRL IPYTSVEDFD WCTPPKKRGL APIECYNRIS GALFTNDKFQ VSTNKLTFMD LELKLKDKNT LFTRILNGQE QRMKIDREFA LWLKDCHEKY DKQIKFTLFK GVITRPDLPS KKQGPWATYA AIEWDGKIYK AGQLVKTIKT LPLFYGSIVR FFLYGDHDGE VYATGGEVQI AMEPQALYDE VRTVPIAKLD RTVAEKAVKK YVEDEMARLP DRLSVTWPEG DELLPNEVRP AGTPIGALRI EILNKKGEAM QKLPGTSHGG SKKLLVELKV ILHSSSGNKE IISHISQHGG KWPYWFKKME NIQKLGNYTL KLQVVLNESN ADTYAGRPLP SKAIKFSVKE GKPEKFSFGL LDLPFRVGVP FNIPLEFQDE FGHTSQLVTD IQPVLEASGL SLHYEEITKG PNCVIRGVTA KGPVNSCQGK NYNLKVTLPG LKEDSQILKI RLLPGHPRRL KVKPDSEILV IENGTAFPFQ VEVLDESDNI TAQPKLIVHC KFSGAPNLPV YVVDCSSSGT SILTGSAIQV QNIKKDQTLK ARIEIPSCKD VAPVEKTIKL LPSSHVARLQ IFSVEGQKAI QIKHQDEVNW IAGDIMHNLI FQMYDEGERE INITSALAEK IKVNWTPEIN KEHLLQGLLP DVQVPTSVKD MRYCQVSFQD DHVSLESAFT VRPLPDEPKH LKCEMKGGKT VQMGQELQGE VVIIITDQYG NQIQAFSPSS LSSLSIAGVG LDSSNLKTTF QENTQSISVR GIKFIPGPPG NKDLCFTWRE FSDFIRVQLI SGPPAKLLLI DWPELKESIP VINGRDLQNP IIVQLCDQWD NPAPVQHVKI SLTKASNLKL MPSNQQHKTD EKGRANLGVF SVFAPRGEHT LQVKAIYNKS IIEGPIIKLM ILPDPEKPVR LNVKYDKDAS FLAGGLFTDF MISVISEDDS IIKNINPARI SMKMWKLSTS GNRPPANAET FSCNKIKDND KEDGCFYFRD KVIPNKVGTY CIQFGFMMDK TNILNSEQVI VEVLPNQPVK LVPKIKPPTP AVSNVRSVAS RTLVRDLHLS ITDDYDNHTG IDLVGTIIAT IKGSNEEDTD TPLFIGKVRT LEFPFVNGSA EIMSLVLAES SPGRDSTEYF IVFEPRLPLL SRTLEPYILP FMFYNDVKKQ QQMAALTKEK DQLSQSIVMY KSLFEASQQL LNEMKCQVEE ARLKEAQLRN ELKIHNIDIP TTQQVPHIEA LLKRKLSEQE ELKKKPRRSC TLPNYTKGSG DVLGKIAHLA QIEDDRAAMV ISWHLASDMD CVVTLTTDAA RRIYDETQGR QQVLPLDSIY KKTLPDWKRS LPHFRNGKLY FKPIGDPVFA RDLLTFPDNV EHCETVFGML LGDTIILDNL DAANHYRKEV VKITHCPTLL TRDGDRIRSN GKFGGLQNKA PPMDKLRGMV FGAPVPKQCL ILGEQIDLLQ QYRSAVCKLD SVNKDLNSQL EYLRTPDMRK KKQELDEHEK NLKLIEEKLG MTPIRKCNDS LRHSPKVETT DCPVPPKRMR REATRQNRII TKTDV

External references

UniProt AlphaFold QuickGO RCSB PDB GeneCards

Frequently asked questions

Answers are generated from the structured data on this page, not written by hand.

Which diseases are associated with SMCHD1?

The strongest Open Targets associations for SMCHD1 are arhinia, choanal atresia, and microphthalmia, facioscapulohumeral muscular dystrophy 2, Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism, Arrhinia - choanal atresia - microphthalmia and Facioscapulohumeral dystrophy.

How long is the SMCHD1 protein?

The Homo sapiens SMCHD1 protein (UniProt A6NHR9) is 2005 amino acids long.

Browse: Targets: S · all protein targets A–Z · drugs A–Z.

Sources

UniProtKB A6NHR9 — name, gene, function, sequence, keywords (CC BY 4.0)
AlphaFold DB A6NHR9 — predicted 3D structure (CC BY 4.0)
Open Targets Platform — disease associations and tractability (CC0)

How this page is built: methodology · editorial policy & corrections.

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