Reviewed, UniProtKB/Swiss-Prot Q96T76 (MMS19_HUMAN)

Names and origin

Protein names

Recommended name:
    MMS19 nucleotide excision repair protein homolog
      Short name=hMMS19
Alternative name(s):
    MMS19-like protein
    MET18 homolog

Gene names

Name:	MMS19
Synonyms:	MMS19L

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1030 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	May play a role in nucleotide excision repair (NER) and RNA polymerase II (POL II) transcription by interacting with ERCC2/XPD and ERCC3/XPB helicases, both subunits of NER-transcription factor TFIIH. May also function as a transcriptional coactivator of estrogen receptor (ER). May be involved in regulation of ER activity by bridging TFIIH with ER or may facilitate TFIIH-mediated phosphorylation of ER in specific promoters and cell types. Ref.1 Ref.3
Subunit structure	Interacts with ERCC2/XPD, ERCC3/XPB and NCOA3/RAC3. Ref.1 Ref.2
Subcellular location	Nucleus. Ref.1 Ref.3 Ref.2
Tissue specificity	Ubiquitously expressed with higher expression in testis. Ref.1 Ref.3
Sequence similarities	Belongs to the MET18/MMS19 family. Contains 7 HEAT repeats.
Sequence caution	The sequence CAC29239.1 differs from that shown. Reason: Frameshift at positions 373 and 412.

Ontologies

Keywords
Biological process	DNA damage DNA repair Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat
Molecular function	Activator
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	nucleotide-excision repair Ref.1 Ref.2 Traceable author statement. Source: UniProtKB positive regulation of transcription, DNA-dependent Ref.2 Inferred from mutant phenotype. Source: UniProtKB response to hormone stimulus Ref.2 Non-traceable author statement. Source: UniProtKB transcription Ref.1 Non-traceable author statement. Source: UniProtKB two-component signal transduction system (phosphorelay) Ref.2 Non-traceable author statement. Source: UniProtKB
Cellular component	holo TFIIH complex Ref.2 Non-traceable author statement. Source: UniProtKB
Molecular function	estrogen receptor binding Ref.2 Inferred from physical interaction. Source: UniProtKB protein binding, bridging Ref.2 Non-traceable author statement. Source: UniProtKB receptor signaling complex scaffold activity Ref.2 Non-traceable author statement. Source: UniProtKB transcription coactivator activity Ref.2 Inferred from mutant phenotype. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
GIPC1	O14908	1	EBI-1044169,EBI-373132
ILK	Q13418	1	EBI-1044169,EBI-747644
MLF2	Q15773	1	EBI-1044169,EBI-1051875
PHB2	Q99623	1	EBI-1044169,EBI-358348
PHLDA3	Q9Y5J5	1	EBI-1044169,EBI-1055859
PTP4A3	O75365	1	EBI-1044169,EBI-1043866

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96T76-1)

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.

Isoform 2 (identifier: Q96T76-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-364: Missing.
     705-705: Q → QVT
     729-737: VEIPQLNQL → GSSWMNSYS
     738-1030: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q96T76-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-737: Missing.

Note: No experimental confirmation available.

Isoform 4 (identifier: Q96T76-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-158: Missing.

Note: No experimental confirmation available.

Isoform 5 (identifier: Q96T76-5)

The sequence of this isoform differs from the canonical sequence as follows:
     309-406: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1030	1030	MMS19 nucleotide excision repair protein homolog		PRO_0000096514
Regions
	Repeat	43 – 81	39	HEAT 1
	Repeat	253 – 291	39	HEAT 2
	Repeat	387 – 426	40	HEAT 3
	Repeat	866 – 904	39	HEAT 4
	Repeat	908 – 946	39	HEAT 5
	Repeat	949 – 987	39	HEAT 6
	Repeat	990 – 1028	39	HEAT 7
Amino acid modifications
	Modified residue	371	1	Phosphoserine By similarity
	Modified residue	1027	1	Phosphoserine Ref.8
Natural variations
	Alternative sequence	1 – 737	737	Missing in isoform 3.		VSP_015562
	Alternative sequence	1 – 364	364	Missing in isoform 2.		VSP_015563
	Alternative sequence	1 – 158	158	Missing in isoform 4.		VSP_015564
	Alternative sequence	309 – 406	98	Missing in isoform 5.		VSP_015565
	Alternative sequence	705	1	Q → QVT in isoform 2.		VSP_015566
	Alternative sequence	729 – 737	9	VEIPQLNQL → GSSWMNSYS in isoform 2.		VSP_015567
	Alternative sequence	738 – 1030	293	Missing in isoform 2.		VSP_015568
	Natural variant	68	1	A → G: dbSNP rs2275586. Ref.1 Ref.3 Ref.2 Ref.4 Ref.5 Ref.7		VAR_023448
	Natural variant	98	1	R → W: dbSNP rs29001280. Ref.5		VAR_023449
	Natural variant	197	1	V → I: dbSNP rs29001285. Ref.5		VAR_023450
	Natural variant	306	1	R → H: dbSNP rs29001306. Ref.5		VAR_023451
	Natural variant	365	1	M → V: dbSNP rs29001309. Ref.5		VAR_023452
	Natural variant	409	1	Q → P: dbSNP rs29001311. Ref.5		VAR_023453
	Natural variant	434	1	Q → E: dbSNP rs29001314. Ref.5		VAR_023454
	Natural variant	526	1	V → I: dbSNP rs17112809. Ref.5		VAR_023455
	Natural variant	558	1	A → V: dbSNP rs12360068. Ref.5		VAR_023456
	Natural variant	790	1	G → D: dbSNP rs3740526. Ref.4 Ref.5 Ref.7		VAR_023457
	Natural variant	983	1	R → H: dbSNP rs29001332. Ref.5		VAR_023458
Experimental info
	Sequence conflict	179	1	Q → H in AAK70402. Ref.2
	Sequence conflict	389	1	V → D in AAK70402. Ref.2
	Sequence conflict	394	1	L → P in AAK70402. Ref.2
	Sequence conflict	502 – 503	2	CR → W in AAH80532. Ref.7
	Sequence conflict	640	1	E → G in BAB55315. Ref.4
	Sequence conflict	741	1	L → F in AAK70402. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified June 26, 2007. Version 2. Checksum: 7EC22CF0E38EFE1D	FASTA	1,030	113,290
	10 20 30 40 50 60 MAAAAAVEAA APMGALWGLV HDFVVGQQEG PADQVAADVK SGNYTVLQVV EALGSSLENP 70 80 90 100 110 120 EPRTRARAIQ LLSQVLLHCH TLLLEKEVVH LILFYENRLK DHHLVIPSVL QGLKALSLCV 130 140 150 160 170 180 ALPPGLAVSV LKAIFQEVHV QSLPQVDRHT VYNIITNFMR TREEELKSLG ADFTFGFIQV 190 200 210 220 230 240 MDGEKDPRNL LVAFRIVHDL ISRDYSLGPF VEELFEVTSC YFPIDFTPPP NDPHGIQRED 250 260 270 280 290 300 LILSLRAVLA STPRFAEFLL PLLIEKVDSE VLSAKLDSLQ TLNACCAVYG QKELKDFLPS 310 320 330 340 350 360 LWASIRREVF QTASERVEAE GLAALHSLTA CLSRSVLRAD AEDLLDSFLS NILQDCRHHL 370 380 390 400 410 420 CEPDMKLVWP SAKLLQAAAG ASARACDSVT SNVLPLLLEQ FHKHSQSSQR RTILEMLLGF 430 440 450 460 470 480 LKLQQKWSYE DKDQRPLNGF KDQLCSLVFM ALTDPSTQLQ LVGIRTLTVL GAQPDLLSYE 490 500 510 520 530 540 DLELAVGHLY RLSFLKEDSQ SCRVAALEAS GTLAALYPVA FSSHLVPKLA EELRVGESNL 550 560 570 580 590 600 TNGDEPTQCS RHLCCLQALS AVSTHPSIVK ETLPLLLQHL WQVNRGNMVA QSSDVIAVCQ 610 620 630 640 650 660 SLRQMAEKCQ QDPESCWYFH QTAIPCLLAL AVQASMPEKE PSVLRKVLLE DEVLAAMVSV 670 680 690 700 710 720 IGTATTHLSP ELAAQSVTHI VPLFLDGNVS FLPENSFPSR FQPFQDGSSG QRRLIALLMA 730 740 750 760 770 780 FVCSLPRNVE IPQLNQLMRE LLELSCCHSC PFSSTAAAKC FAGLLNKHPA GQQLDEFLQL 790 800 810 820 830 840 AVDKVEAGLG SGPCRSQAFT LLLWVTKALV LRYHPLSSCL TARLMGLLSD PELGPAAADG 850 860 870 880 890 900 FSLLMSDCTD VLTRAGHAEV RIMFRQRFFT DNVPALVQGF HAAPQDVKPN YLKGLSHVLN 910 920 930 940 950 960 RLPKPVLLPE LPTLLSLLLE ALSCPDCVVQ LSTLSCLQPL LLEAPQVMSL HVDTLVTKFL 970 980 990 1000 1010 1020 NLSSSPSMAV RIAALQCMHA LTRLPTPVLL PYKPQVIRAL AKPLDDKKRL VRKEAVSARG 1030 EWFLLGSPGS
	Isoform 2. Checksum: CAA5EA99715B4B07	FASTA	375	41,278
	10 20 30 40 50 60 MKLVWPSAKL LQAAAGASAR ACDSVTSNVL PLLLEQFHKH SQSSQRRTIL EMLLGFLKLQ 70 80 90 100 110 120 QKWSYEDKDQ RPLNGFKDQL CSLVFMALTD PSTQLQLVGI RTLTVLGAQP DLLSYEDLEL 130 140 150 160 170 180 AVGHLYRLSF LKEDSQSCRV AALEASGTLA ALYPVAFSSH LVPKLAEELR VGESNLTNGD 190 200 210 220 230 240 EPTQCSRHLC CLQALSAVST HPSIVKETLP LLLQHLWQVN RGNMVAQSSD VIAVCQSLRQ 250 260 270 280 290 300 MAEKCQQDPE SCWYFHQTAI PCLLALAVQA SMPEKEPSVL RKVLLEDEVL AAMVSVIGTA 310 320 330 340 350 360 TTHLSPELAA QSVTHIVPLF LDGNVSFLPE NSFPSRFQPF QVTDGSSGQR RLIALLMAFV 370 CSLPRNGSSW MNSYS
	Isoform 3. Checksum: 4E7AE8E1F55ED766	FASTA	293	31,866
	10 20 30 40 50 60 MRELLELSCC HSCPFSSTAA AKCFAGLLNK HPAGQQLDEF LQLAVDKVEA GLGSGPCRSQ 70 80 90 100 110 120 AFTLLLWVTK ALVLRYHPLS SCLTARLMGL LSDPELGPAA ADGFSLLMSD CTDVLTRAGH 130 140 150 160 170 180 AEVRIMFRQR FFTDNVPALV QGFHAAPQDV KPNYLKGLSH VLNRLPKPVL LPELPTLLSL 190 200 210 220 230 240 LLEALSCPDC VVQLSTLSCL QPLLLEAPQV MSLHVDTLVT KFLNLSSSPS MAVRIAALQC 250 260 270 280 290 MHALTRLPTP VLLPYKPQVI RALAKPLDDK KRLVRKEAVS ARGEWFLLGS PGS
	Isoform 4. Checksum: B4BBED480FCDD381	FASTA	872	96,186
	10 20 30 40 50 60 MRTREEELKS LGADFTFGFI QVMDGEKDPR NLLVAFRIVH DLISRDYSLG PFVEELFEVT 70 80 90 100 110 120 SCYFPIDFTP PPNDPHGIQR EDLILSLRAV LASTPRFAEF LLPLLIEKVD SEVLSAKLDS 130 140 150 160 170 180 LQTLNACCAV YGQKELKDFL PSLWASIRRE VFQTASERVE AEGLAALHSL TACLSRSVLR 190 200 210 220 230 240 ADAEDLLDSF LSNILQDCRH HLCEPDMKLV WPSAKLLQAA AGASARACDS VTSNVLPLLL 250 260 270 280 290 300 EQFHKHSQSS QRRTILEMLL GFLKLQQKWS YEDKDQRPLN GFKDQLCSLV FMALTDPSTQ 310 320 330 340 350 360 LQLVGIRTLT VLGAQPDLLS YEDLELAVGH LYRLSFLKED SQSCRVAALE ASGTLAALYP 370 380 390 400 410 420 VAFSSHLVPK LAEELRVGES NLTNGDEPTQ CSRHLCCLQA LSAVSTHPSI VKETLPLLLQ 430 440 450 460 470 480 HLWQVNRGNM VAQSSDVIAV CQSLRQMAEK CQQDPESCWY FHQTAIPCLL ALAVQASMPE 490 500 510 520 530 540 KEPSVLRKVL LEDEVLAAMV SVIGTATTHL SPELAAQSVT HIVPLFLDGN VSFLPENSFP 550 560 570 580 590 600 SRFQPFQDGS SGQRRLIALL MAFVCSLPRN VEIPQLNQLM RELLELSCCH SCPFSSTAAA 610 620 630 640 650 660 KCFAGLLNKH PAGQQLDEFL QLAVDKVEAG LGSGPCRSQA FTLLLWVTKA LVLRYHPLSS 670 680 690 700 710 720 CLTARLMGLL SDPELGPAAA DGFSLLMSDC TDVLTRAGHA EVRIMFRQRF FTDNVPALVQ 730 740 750 760 770 780 GFHAAPQDVK PNYLKGLSHV LNRLPKPVLL PELPTLLSLL LEALSCPDCV VQLSTLSCLQ 790 800 810 820 830 840 PLLLEAPQVM SLHVDTLVTK FLNLSSSPSM AVRIAALQCM HALTRLPTPV LLPYKPQVIR 850 860 870 ALAKPLDDKK RLVRKEAVSA RGEWFLLGSP GS
	Isoform 5. Checksum: D55192BDBC190D1A	FASTA	932	102,639
	10 20 30 40 50 60 MAAAAAVEAA APMGALWGLV HDFVVGQQEG PADQVAADVK SGNYTVLQVV EALGSSLENP 70 80 90 100 110 120 EPRTRARAIQ LLSQVLLHCH TLLLEKEVVH LILFYENRLK DHHLVIPSVL QGLKALSLCV 130 140 150 160 170 180 ALPPGLAVSV LKAIFQEVHV QSLPQVDRHT VYNIITNFMR TREEELKSLG ADFTFGFIQV 190 200 210 220 230 240 MDGEKDPRNL LVAFRIVHDL ISRDYSLGPF VEELFEVTSC YFPIDFTPPP NDPHGIQRED 250 260 270 280 290 300 LILSLRAVLA STPRFAEFLL PLLIEKVDSE VLSAKLDSLQ TLNACCAVYG QKELKDFLPS 310 320 330 340 350 360 LWASIRRESS QRRTILEMLL GFLKLQQKWS YEDKDQRPLN GFKDQLCSLV FMALTDPSTQ 370 380 390 400 410 420 LQLVGIRTLT VLGAQPDLLS YEDLELAVGH LYRLSFLKED SQSCRVAALE ASGTLAALYP 430 440 450 460 470 480 VAFSSHLVPK LAEELRVGES NLTNGDEPTQ CSRHLCCLQA LSAVSTHPSI VKETLPLLLQ 490 500 510 520 530 540 HLWQVNRGNM VAQSSDVIAV CQSLRQMAEK CQQDPESCWY FHQTAIPCLL ALAVQASMPE 550 560 570 580 590 600 KEPSVLRKVL LEDEVLAAMV SVIGTATTHL SPELAAQSVT HIVPLFLDGN VSFLPENSFP 610 620 630 640 650 660 SRFQPFQDGS SGQRRLIALL MAFVCSLPRN VEIPQLNQLM RELLELSCCH SCPFSSTAAA 670 680 690 700 710 720 KCFAGLLNKH PAGQQLDEFL QLAVDKVEAG LGSGPCRSQA FTLLLWVTKA LVLRYHPLSS 730 740 750 760 770 780 CLTARLMGLL SDPELGPAAA DGFSLLMSDC TDVLTRAGHA EVRIMFRQRF FTDNVPALVQ 790 800 810 820 830 840 GFHAAPQDVK PNYLKGLSHV LNRLPKPVLL PELPTLLSLL LEALSCPDCV VQLSTLSCLQ 850 860 870 880 890 900 PLLLEAPQVM SLHVDTLVTK FLNLSSSPSM AVRIAALQCM HALTRLPTPV LLPYKPQVIR 910 920 930 ALAKPLDDKK RLVRKEAVSA RGEWFLLGSP GS

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of a human homolog of the yeast nucleotide excision repair gene MMS19 and interaction with transcription repair factor TFIIH via the XPB and XPD helicases." Seroz T., Winkler G.S., Auriol J., Verhage R.A., Vermeulen W., Smit B., Brouwer J., Eker A.P.M., Weeda G., Egly J.-M., Hoeijmakers J.H.J. Nucleic Acids Res. 28:4506-4513(2000) [PubMed: 11071939] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLY-68, FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, INTERACTION WITH ERCC2 AND ERCC3. Tissue: Cervix carcinoma.
[2]	"The human homologue of the yeast DNA repair and TFIIH regulator MMS19 is an AF-1-specific coactivator of estrogen receptor." Wu X., Li H., Chen J.D. J. Biol. Chem. 276:23962-23968(2001) [PubMed: 11279242] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLY-68, INTERACTION WITH NCOA3, SUBCELLULAR LOCATION.
[3]	"Cloning the human and mouse MMS19 genes and functional complementation of a yeast mms19 deletion mutant." Queimado L., Rao M., Schultz R.A., Koonin E.V., Aravind L., Nardo T., Stefanini M., Friedberg E.C. Nucleic Acids Res. 29:1884-1891(2001) [PubMed: 11328871] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT GLY-68, FUNCTION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION.
[4]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 48-1030 (ISOFORM 5), VARIANTS GLY-68 AND ASP-790. Tissue: Tongue.
[5]	NIEHS SNPs program Submitted (MAR-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLY-68; TRP-98; ILE-197; HIS-306; VAL-365; PRO-409; GLU-434; ILE-526; VAL-558; ASP-790 AND HIS-983.
[6]	"The DNA sequence and comparative analysis of human chromosome 10." Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J. Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4), VARIANTS GLY-68 AND ASP-790. Tissue: Brain, Eye, Lymph and Uterus.
[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: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1027, MASS SPECTROMETRY.
[9]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+	Additional computationally mapped references.

Web resources

NIEHS-SNPs

Cross-references

Sequence databases
EMBLGenBankDDBJ	AJ306408 mRNA. Translation: CAC29239.1. Frameshift. AF357881 mRNA. Translation: AAK70402.1. AF319947 mRNA. Translation: AAK52668.1. AK027710 mRNA. Translation: BAB55315.1. Different initiation. AK056581 mRNA. Translation: BAB71223.1. AY974244 Genomic DNA. Translation: AAX59033.1. AL359388, AL355490 Genomic DNA. Translation: CAI14189.1. AL355490, AL359388 Genomic DNA. Translation: CAI40770.1. BC002692 mRNA. Translation: AAH02692.1. BC006575 mRNA. Translation: AAH06575.2. BC007298 mRNA. Translation: AAH07298.1. BC009396 mRNA. Translation: AAH09396.2. BC080532 mRNA. Translation: AAH80532.1. BC117129 mRNA. Translation: AAI17130.1.
IPI	IPI00154451. IPI00178649. IPI00180322. IPI00640677. IPI00646611.
RefSeq	NP_071757.4.
UniGene	Hs.500721
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	Q96T76. 13 interactions.
PTM databases
PhosphoSite	Q96T76.
Proteomic databases
PRIDE	Q96T76.
Genome annotation databases
Ensembl	ENSG00000155229. Homo sapiens. [Contig view]
GeneID	64210.
KEGG	hsa:64210.
NMPDR	fig|9606.3.peg.4444.
UCSC	uc001knq.1. human. uc001knr.1. human. uc001kns.2. human. uc009xvt.1. human.
Organism-specific databases
GeneCards	GC10M099209.
H-InvDB	HIX0009091.
HGNC	HGNC:13824. MMS19.
PharmGKB	PA30892.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q96T76.
OMA	Q96T76. DCRHHLC.
Gene expression databases
Bgee	Q96T76.
CleanEx	HS_MMS19.
GermOnline	ENSG00000155229. Homo sapiens.
Family and domain databases
InterPro	IPR011989. ARM-like. IPR000357. HEAT. [Graphical view]
Gene3D	G3DSA:1.25.10.10. ARM-like. 2 hits.
Pfam	PF02985. HEAT. 1 hit. [Graphical view]
PROSITE	PS50077. HEAT_REPEAT. False negative. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	66115.

Entry information

Entry name

MMS19_HUMAN

Accession

Primary (citable) accession number: Q96T76
Secondary accession number(s): Q17RZ8 , Q5T455, Q66K82, Q7L4W8, Q969Z1, Q96DF1, Q96MR1, Q96RK5, Q96SK1, Q9BUE2, Q9BYS9

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 13, 2005
Last sequence update:	June 26, 2007
Last modified:	July 7, 2009
This is version 62 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)