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A6NHR9

- SMHD1_HUMAN

UniProt

A6NHR9 - SMHD1_HUMAN

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Protein

Structural maintenance of chromosomes flexible hinge domain-containing protein 1

Gene

SMCHD1

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

Functioni

Required for maintenance of X inactivation in females and hypermethylation of CpG islands associated with inactive X. Involved in a pathway that mediates the methylation of a subset of CpG islands slowly and requires the de novo methyltransferase DNMT3B (By similarity). Required for DUX4 silencing in somatic cells.By similarity1 Publication

GO - Molecular functioni

  1. ATP binding Source: InterPro

GO - Biological processi

  1. chromosome organization Source: InterPro
  2. inactivation of X chromosome by DNA methylation Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Structural maintenance of chromosomes flexible hinge domain-containing protein 1
Alternative name(s):
SMC hinge domain-containing protein 1
Gene namesi
Name:SMCHD1
Synonyms:KIAA0650
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:29090. SMCHD1.

Subcellular locationi

Chromosome By similarity
Note: Localizes to Barr body.By similarity

GO - Cellular componenti

  1. Barr body Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Chromosome

Pathology & Biotechi

Involvement in diseasei

Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]: A degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry. SMCHD1 mutations lead to DUX4 expression in somatic tissues, including muscle cells, when an haplotype on chromosome 4 is permissive for DUX4 expression. Ectopic expression of DUX4 in skeletal muscle activates the expression of stem cell and germline genes, and, when overexpressed in somatic cells, DUX4 can ultimately lead to cell death.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti353 – 3531Y → C in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
VAR_069067
Natural varianti479 – 4791R → P in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
VAR_069068
Natural varianti492 – 4921C → R in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
VAR_069069
Natural varianti690 – 6901P → S in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
VAR_069070
Natural varianti868 – 8681S → N in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
VAR_069071
Natural varianti1554 – 15541F → S in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
VAR_069072

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi158901. phenotype.
Orphaneti269. Facioscapulohumeral dystrophy.
PharmGKBiPA128395776.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed2 Publications
Chaini2 – 20052004Structural maintenance of chromosomes flexible hinge domain-containing protein 1PRO_0000332144Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine2 Publications
Modified residuei1349 – 13491N6-acetyllysine1 Publication
Modified residuei1802 – 18021N6-succinyllysineBy similarity

Post-translational modificationi

Sumoylated with SUMO1.By similarity

Keywords - PTMi

Acetylation, Ubl conjugation

Proteomic databases

MaxQBiA6NHR9.
PaxDbiA6NHR9.
PeptideAtlasiQ6AHX6.
PRIDEiA6NHR9.

PTM databases

PhosphoSiteiA6NHR9.

Expressioni

Gene expression databases

BgeeiA6NHR9.
CleanExiHS_SMCHD1.
ExpressionAtlasiA6NHR9. baseline and differential.
GenevestigatoriA6NHR9.

Organism-specific databases

HPAiHPA039441.

Interactioni

Protein-protein interaction databases

BioGridi116929. 14 interactions.
IntActiA6NHR9. 7 interactions.
MINTiMINT-5010096.
STRINGi9606.ENSP00000352119.

Structurei

3D structure databases

ProteinModelPortaliA6NHR9.
SMRiA6NHR9. Positions 123-190.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiNOG73201.
GeneTreeiENSGT00390000006950.
HOGENOMiHOG000007754.
HOVERGENiHBG108493.
InParanoidiA6NHR9.
OMAiTQQVPHI.
OrthoDBiEOG72JWF8.
PhylomeDBiA6NHR9.
TreeFamiTF329426.

Family and domain databases

Gene3Di3.30.565.10. 2 hits.
InterProiIPR003594. HATPase_C.
IPR010935. SMC_hinge.
[Graphical view]
PfamiPF06470. SMC_hinge. 1 hit.
[Graphical view]
SMARTiSM00968. SMC_hinge. 1 hit.
[Graphical view]
SUPFAMiSSF55874. SSF55874. 1 hit.
SSF75553. SSF75553. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: A6NHR9-1) [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
MAAADGGGPG GASVGTEEDG GGVGHRTVYL FDRREKESEL GDRPLQVGER
60 70 80 90 100
SDYAGFRACV CQTLGISPEE KFVITTTSRK EITCDNFDET VKDGVTLYLL
110 120 130 140 150
QSVNQLLLTA TKERIDFLPH YDTLVKSGMY EYYASEGQNP LPFALAELID
160 170 180 190 200
NSLSATSRNI GVRRIQIKLL FDETQGKPAV AVIDNGRGMT SKQLNNWAVY
210 220 230 240 250
RLSKFTRQGD FESDHSGYVR PVPVPRSLNS DISYFGVGGK QAVFFVGQSA
260 270 280 290 300
RMISKPADSQ DVHELVLSKE DFEKKEKNKE AIYSGYIRNR KPSDSVHITN
310 320 330 340 350
DDERFLHHLI IEEKEKDSFT AVVITGVQPE HIQYLKNYFH LWTRQLAHIY
360 370 380 390 400
HYYIHGPKGN EIRTSKEVEP FNNIDIEISM FEKGKVPKIV NLREIQDDMQ
410 420 430 440 450
TLYVNTAADS FEFKAHVEGD GVVEGIIRYH PFLYDRETYP DDPCFPSKLK
460 470 480 490 500
DEDDEDDCFI LEKAARGKRP IFECFWNGRL IPYTSVEDFD WCTPPKKRGL
510 520 530 540 550
APIECYNRIS GALFTNDKFQ VSTNKLTFMD LELKLKDKNT LFTRILNGQE
560 570 580 590 600
QRMKIDREFA LWLKDCHEKY DKQIKFTLFK GVITRPDLPS KKQGPWATYA
610 620 630 640 650
AIEWDGKIYK AGQLVKTIKT LPLFYGSIVR FFLYGDHDGE VYATGGEVQI
660 670 680 690 700
AMEPQALYDE VRTVPIAKLD RTVAEKAVKK YVEDEMARLP DRLSVTWPEG
710 720 730 740 750
DELLPNEVRP AGTPIGALRI EILNKKGEAM QKLPGTSHGG SKKLLVELKV
760 770 780 790 800
ILHSSSGNKE IISHISQHGG KWPYWFKKME NIQKLGNYTL KLQVVLNESN
810 820 830 840 850
ADTYAGRPLP SKAIKFSVKE GKPEKFSFGL LDLPFRVGVP FNIPLEFQDE
860 870 880 890 900
FGHTSQLVTD IQPVLEASGL SLHYEEITKG PNCVIRGVTA KGPVNSCQGK
910 920 930 940 950
NYNLKVTLPG LKEDSQILKI RLLPGHPRRL KVKPDSEILV IENGTAFPFQ
960 970 980 990 1000
VEVLDESDNI TAQPKLIVHC KFSGAPNLPV YVVDCSSSGT SILTGSAIQV
1010 1020 1030 1040 1050
QNIKKDQTLK ARIEIPSCKD VAPVEKTIKL LPSSHVARLQ IFSVEGQKAI
1060 1070 1080 1090 1100
QIKHQDEVNW IAGDIMHNLI FQMYDEGERE INITSALAEK IKVNWTPEIN
1110 1120 1130 1140 1150
KEHLLQGLLP DVQVPTSVKD MRYCQVSFQD DHVSLESAFT VRPLPDEPKH
1160 1170 1180 1190 1200
LKCEMKGGKT VQMGQELQGE VVIIITDQYG NQIQAFSPSS LSSLSIAGVG
1210 1220 1230 1240 1250
LDSSNLKTTF QENTQSISVR GIKFIPGPPG NKDLCFTWRE FSDFIRVQLI
1260 1270 1280 1290 1300
SGPPAKLLLI DWPELKESIP VINGRDLQNP IIVQLCDQWD NPAPVQHVKI
1310 1320 1330 1340 1350
SLTKASNLKL MPSNQQHKTD EKGRANLGVF SVFAPRGEHT LQVKAIYNKS
1360 1370 1380 1390 1400
IIEGPIIKLM ILPDPEKPVR LNVKYDKDAS FLAGGLFTDF MISVISEDDS
1410 1420 1430 1440 1450
IIKNINPARI SMKMWKLSTS GNRPPANAET FSCNKIKDND KEDGCFYFRD
1460 1470 1480 1490 1500
KVIPNKVGTY CIQFGFMMDK TNILNSEQVI VEVLPNQPVK LVPKIKPPTP
1510 1520 1530 1540 1550
AVSNVRSVAS RTLVRDLHLS ITDDYDNHTG IDLVGTIIAT IKGSNEEDTD
1560 1570 1580 1590 1600
TPLFIGKVRT LEFPFVNGSA EIMSLVLAES SPGRDSTEYF IVFEPRLPLL
1610 1620 1630 1640 1650
SRTLEPYILP FMFYNDVKKQ QQMAALTKEK DQLSQSIVMY KSLFEASQQL
1660 1670 1680 1690 1700
LNEMKCQVEE ARLKEAQLRN ELKIHNIDIP TTQQVPHIEA LLKRKLSEQE
1710 1720 1730 1740 1750
ELKKKPRRSC TLPNYTKGSG DVLGKIAHLA QIEDDRAAMV ISWHLASDMD
1760 1770 1780 1790 1800
CVVTLTTDAA RRIYDETQGR QQVLPLDSIY KKTLPDWKRS LPHFRNGKLY
1810 1820 1830 1840 1850
FKPIGDPVFA RDLLTFPDNV EHCETVFGML LGDTIILDNL DAANHYRKEV
1860 1870 1880 1890 1900
VKITHCPTLL TRDGDRIRSN GKFGGLQNKA PPMDKLRGMV FGAPVPKQCL
1910 1920 1930 1940 1950
ILGEQIDLLQ QYRSAVCKLD SVNKDLNSQL EYLRTPDMRK KKQELDEHEK
1960 1970 1980 1990 2000
NLKLIEEKLG MTPIRKCNDS LRHSPKVETT DCPVPPKRMR REATRQNRII

TKTDV
Length:2,005
Mass (Da):226,374
Last modified:April 29, 2008 - v2
Checksum:iB662C681424241B7
GO
Isoform 2 (identifier: A6NHR9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1907-1917: DLLQQYRSAVC → VHACVPSYSGG
     1918-2005: Missing.

Note: No experimental confirmation available.

Show »
Length:1,917
Mass (Da):215,745
Checksum:i1E16E802BA6F7FD7
GO
Isoform 3 (identifier: A6NHR9-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1065: Missing.
     1826-1827: VF → GC
     1828-2005: Missing.

Note: No experimental confirmation available.

Show »
Length:762
Mass (Da):85,965
Checksum:i3FD613313D84C89A
GO

Sequence cautioni

The sequence BAB15202.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BC035774 differs from that shown. Reason: Frameshift at position 1730. Curated
The sequence CAH10538.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1278 – 12781Q → E in CAB45732. (PubMed:17974005)Curated
Sequence conflicti1384 – 13841G → E in CAH10538. (PubMed:17974005)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti353 – 3531Y → C in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
VAR_069067
Natural varianti479 – 4791R → P in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
VAR_069068
Natural varianti492 – 4921C → R in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
VAR_069069
Natural varianti690 – 6901P → S in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
VAR_069070
Natural varianti708 – 7081V → I.
Corresponds to variant rs2276092 [ dbSNP | Ensembl ].
VAR_042959
Natural varianti868 – 8681S → N in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
VAR_069071
Natural varianti879 – 8791K → N.
Corresponds to variant rs633422 [ dbSNP | Ensembl ].
VAR_042960
Natural varianti960 – 9601I → V.
Corresponds to variant rs9961682 [ dbSNP | Ensembl ].
VAR_051365
Natural varianti1554 – 15541F → S in FSHD2; decreased protein level in fibroblasts as compared to wild type protein. 1 Publication
VAR_069072

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 10651065Missing in isoform 3. 1 PublicationVSP_033344Add
BLAST
Alternative sequencei1826 – 18272VF → GC in isoform 3. 1 PublicationVSP_033345
Alternative sequencei1828 – 2005178Missing in isoform 3. 1 PublicationVSP_033346Add
BLAST
Alternative sequencei1907 – 191711DLLQQYRSAVC → VHACVPSYSGG in isoform 2. 1 PublicationVSP_033347Add
BLAST
Alternative sequencei1918 – 200588Missing in isoform 2. 1 PublicationVSP_033348Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK025646 mRNA. Translation: BAB15202.1. Different initiation.
AK126324 mRNA. Translation: BAC86525.1.
AP001011 Genomic DNA. No translation available.
AP005061 Genomic DNA. No translation available.
AL080138 mRNA. Translation: CAB45732.1.
CR627458 mRNA. Translation: CAH10538.1. Different initiation.
AB014550 mRNA. Translation: BAA31625.1.
BC035774 mRNA. No translation available.
CCDSiCCDS45822.1. [A6NHR9-1]
PIRiT00372.
RefSeqiNP_056110.2. NM_015295.2. [A6NHR9-1]
UniGeneiHs.8118.

Genome annotation databases

EnsembliENST00000320876; ENSP00000326603; ENSG00000101596. [A6NHR9-1]
GeneIDi23347.
KEGGihsa:23347.
UCSCiuc002klm.4. human. [A6NHR9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK025646 mRNA. Translation: BAB15202.1 . Different initiation.
AK126324 mRNA. Translation: BAC86525.1 .
AP001011 Genomic DNA. No translation available.
AP005061 Genomic DNA. No translation available.
AL080138 mRNA. Translation: CAB45732.1 .
CR627458 mRNA. Translation: CAH10538.1 . Different initiation.
AB014550 mRNA. Translation: BAA31625.1 .
BC035774 mRNA. No translation available.
CCDSi CCDS45822.1. [A6NHR9-1 ]
PIRi T00372.
RefSeqi NP_056110.2. NM_015295.2. [A6NHR9-1 ]
UniGenei Hs.8118.

3D structure databases

ProteinModelPortali A6NHR9.
SMRi A6NHR9. Positions 123-190.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116929. 14 interactions.
IntActi A6NHR9. 7 interactions.
MINTi MINT-5010096.
STRINGi 9606.ENSP00000352119.

PTM databases

PhosphoSitei A6NHR9.

Proteomic databases

MaxQBi A6NHR9.
PaxDbi A6NHR9.
PeptideAtlasi Q6AHX6.
PRIDEi A6NHR9.

Protocols and materials databases

DNASUi 23347.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000320876 ; ENSP00000326603 ; ENSG00000101596 . [A6NHR9-1 ]
GeneIDi 23347.
KEGGi hsa:23347.
UCSCi uc002klm.4. human. [A6NHR9-1 ]

Organism-specific databases

CTDi 23347.
GeneCardsi GC18P002649.
H-InvDB HIX0014298.
HGNCi HGNC:29090. SMCHD1.
HPAi HPA039441.
MIMi 158901. phenotype.
614982. gene.
neXtProti NX_A6NHR9.
Orphaneti 269. Facioscapulohumeral dystrophy.
PharmGKBi PA128395776.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG73201.
GeneTreei ENSGT00390000006950.
HOGENOMi HOG000007754.
HOVERGENi HBG108493.
InParanoidi A6NHR9.
OMAi TQQVPHI.
OrthoDBi EOG72JWF8.
PhylomeDBi A6NHR9.
TreeFami TF329426.

Miscellaneous databases

ChiTaRSi SMCHD1. human.
GenomeRNAii 23347.
NextBioi 45315.
PROi A6NHR9.
SOURCEi Search...

Gene expression databases

Bgeei A6NHR9.
CleanExi HS_SMCHD1.
ExpressionAtlasi A6NHR9. baseline and differential.
Genevestigatori A6NHR9.

Family and domain databases

Gene3Di 3.30.565.10. 2 hits.
InterProi IPR003594. HATPase_C.
IPR010935. SMC_hinge.
[Graphical view ]
Pfami PF06470. SMC_hinge. 1 hit.
[Graphical view ]
SMARTi SM00968. SMC_hinge. 1 hit.
[Graphical view ]
SUPFAMi SSF55874. SSF55874. 1 hit.
SSF75553. SSF75553. 1 hit.
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] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1674-2005 (ISOFORM 1).
    Tissue: Trachea.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 530-2005 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1278-2005 (ISOFORM 1).
    Tissue: Testis.
  4. "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1158-2005 (ISOFORM 1).
    Tissue: Brain.
  5. "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] OF 1699-2005 (ISOFORM 1).
    Tissue: Eye.
  6. Bienvenut W.V., Lilla S., von Kriegsheim A., Lempens A., Kolch W.
    Submitted (DEC-2008) to UniProtKB
    Cited for: PROTEIN SEQUENCE OF 2-26; 280-288; 663-671; 826-836; 1208-1220; 1267-1275 AND 1495-1506, CLEAVAGE OF INITIATOR METHIONINE, ACETYLATION AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY.
    Tissue: Ovarian carcinoma.
  7. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
    Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
    Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  8. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-1349, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. Cited for: VARIANTS FSHD2 CYS-353; PRO-479; ARG-492; SER-690; ASN-868 AND SER-1554, FUNCTION.

Entry informationi

Entry nameiSMHD1_HUMAN
AccessioniPrimary (citable) accession number: A6NHR9
Secondary accession number(s): O75141
, Q6AHX6, Q6ZTQ8, Q9H6Q2, Q9UG39
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 29, 2008
Last sequence update: April 29, 2008
Last modified: November 26, 2014
This is version 71 of the entry and version 2 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: 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

External Data

Dasty 3