P51814 (ZNF41_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Zinc finger protein 41

Gene names

Name:

ZNF41

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	821 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	May be involved in transcriptional regulation.
Subcellular location	Nucleus Potential.
Tissue specificity	Expressed in the heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Ref.7
Involvement in disease	Mental retardation, X-linked 89 (MRX89) [MIM:300848]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7 A chromosomal aberration involving ZNF41 has been found in a patient with sever mental retardation. Translocation t(X;7)(p11.3;q11.21).
Sequence similarities	Belongs to the krueppel C2H2-type zinc-finger protein family. Contains 18 C2H2-type zinc fingers. Contains 1 KRAB domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Disease	Disease mutation Mental retardation
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Non-traceable author statement. Source: UniProtKB
Molecular_function	DNA binding Non-traceable author statement. Source: UniProtKB sequence-specific DNA binding transcription factor activity Non-traceable author statement. Source: UniProtKB zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 8 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.

Isoform 1 (identifier: P51814-1)

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: P51814-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: MAANGDSPPW...RSSADHAALN → MGTLPHGPRPWLQRDVAAHV

Isoform 3 (identifier: P51814-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: MAANGDSPPWSPALAAEGRGSSCEVRRERTPEARIHSVKRYPDLSPGPKGRS → MGTLPHGPRPWLQRDVAAHV

Isoform 4 (identifier: P51814-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-128: Missing.

Isoform 5 (identifier: P51814-5)

The sequence of this isoform differs from the canonical sequence as follows:
     53-60: Missing.

Isoform 6 (identifier: P51814-6)

The sequence of this isoform differs from the canonical sequence as follows:
     25-66: Missing.

Isoform 7 (identifier: P51814-7)

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: MAANGDSPPW...RSSADHAALN → MGTLPHGPRPWLQRDVAAHV
     141-176: Missing.

Isoform 8 (identifier: P51814-8)

The sequence of this isoform differs from the canonical sequence as follows:
     25-66: Missing.
     141-176: Missing.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 821	821	Zinc finger protein 41		PRO_0000047374
Regions
	Domain	69 – 140	72	KRAB
	Zinc finger	313 – 335	23	C2H2-type 1
	Zinc finger	341 – 364	24	C2H2-type 2; degenerate
	Zinc finger	369 – 391	23	C2H2-type 3
	Zinc finger	397 – 419	23	C2H2-type 4
	Zinc finger	425 – 447	23	C2H2-type 5
	Zinc finger	453 – 475	23	C2H2-type 6
	Zinc finger	481 – 503	23	C2H2-type 7
	Zinc finger	509 – 531	23	C2H2-type 8
	Zinc finger	537 – 559	23	C2H2-type 9
	Zinc finger	565 – 587	23	C2H2-type 10
	Zinc finger	593 – 615	23	C2H2-type 11
	Zinc finger	621 – 643	23	C2H2-type 12
	Zinc finger	649 – 671	23	C2H2-type 13
	Zinc finger	677 – 699	23	C2H2-type 14
	Zinc finger	705 – 727	23	C2H2-type 15
	Zinc finger	733 – 755	23	C2H2-type 16
	Zinc finger	761 – 783	23	C2H2-type 17
	Zinc finger	789 – 811	23	C2H2-type 18
Natural variations
	Alternative sequence	1 – 128	128	Missing in isoform 4.		VSP_006887
	Alternative sequence	1 – 60	60	MAANG…HAALN → MGTLPHGPRPWLQRDVAAHV in isoform 7 and isoform 2.		VSP_006883
	Alternative sequence	1 – 52	52	MAANG…PKGRS → MGTLPHGPRPWLQRDVAAHV in isoform 3.		VSP_006884
	Alternative sequence	25 – 66	42	Missing in isoform 6 and isoform 8.		VSP_006885
	Alternative sequence	53 – 60	8	Missing in isoform 5.		VSP_006886
	Alternative sequence	141 – 176	36	Missing in isoform 7 and isoform 8.		VSP_006888
	Natural variant	153	1	P → L in MRX89. Ref.7		VAR_021785
	Natural variant	167	1	I → R. Ref.7 Corresponds to variant rs17147624 [ dbSNP | Ensembl ].		VAR_021786
	Natural variant	357	1	D → E. Ref.7 Corresponds to variant rs2498170 [ dbSNP | Ensembl ].		VAR_021787
Experimental info
	Sequence conflict	111	1	Q → R in CAB53039. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 23, 2002. Version 2. Checksum: F44B7808C9A8AF13	FASTA	821	93,728
	10 20 30 40 50 60 MAANGDSPPW SPALAAEGRG SSCEVRRERT PEARIHSVKR YPDLSPGPKG RSSADHAALN 70 80 90 100 110 120 SIVSLQASVS FEDVTVDFSK EEWQHLDPAQ RRLYWDVTLE NYSHLLSVGY QIPKSEAAFK 130 140 150 160 170 180 LEQGEGPWML EGEAPHQSCS GEAIGKMQQQ GIPGGIFFHC ERFDQPIGED SLCSILEELW 190 200 210 220 230 240 QDNDQLEQRQ ENQNNLLSHV KVLIKERGYE HKNIEKIIHV TTKLVPSIKR LHNCDTILKH 250 260 270 280 290 300 TLNSHNHNRN SATKNLGKIF GNGNNFPHSP SSTKNENAKT GANSCEHDHY EKHLSHKQAP 310 320 330 340 350 360 THHQKIHPEE KLYVCTECVM GFTQKSHLFE HQRIHAGEKS RECDKSNKVF PQKPQVDVHP 370 380 390 400 410 420 SVYTGEKPYL CTQCGKVFTL KSNLITHQKI HTGQKPYKCS ECGKAFFQRS DLFRHLRIHT 430 440 450 460 470 480 GEKPYECSEC GKGFSQNSDL SIHQKTHTGE KHYECNECGK AFTRKSALRM HQRIHTGEKP 490 500 510 520 530 540 YVCADCGKAF IQKSHFNTHQ RIHTGEKPYE CSDCGKSFTK KSQLHVHQRI HTGEKPYICT 550 560 570 580 590 600 ECGKVFTHRT NLTTHQKTHT GEKPYMCAEC GKAFTDQSNL IKHQKTHTGE KPYKCNGCGK 610 620 630 640 650 660 AFIWKSRLKI HQKSHIGERH YECKDCGKAF IQKSTLSVHQ RIHTGEKPYV CPECGKAFIQ 670 680 690 700 710 720 KSHFIAHHRI HTGEKPYECS DCGKCFTKKS QLRVHQKIHT GEKPNICAEC GKAFTDRSNL 730 740 750 760 770 780 ITHQKIHTRE KPYECGDCGK TFTWKSRLNI HQKSHTGERH YECSKCGKAF IQKATLSMHQ 790 800 810 820 IIHTGKKPYA CTECQKAFTD RSNLIKHQKM HSGEKRYKAS D
	Isoform 2 [UniParc]. Checksum: B0531CFE87C20260	FASTA	781	89,598
	10 20 30 40 50 60 MGTLPHGPRP WLQRDVAAHV SIVSLQASVS FEDVTVDFSK EEWQHLDPAQ RRLYWDVTLE 70 80 90 100 110 120 NYSHLLSVGY QIPKSEAAFK LEQGEGPWML EGEAPHQSCS GEAIGKMQQQ GIPGGIFFHC 130 140 150 160 170 180 ERFDQPIGED SLCSILEELW QDNDQLEQRQ ENQNNLLSHV KVLIKERGYE HKNIEKIIHV 190 200 210 220 230 240 TTKLVPSIKR LHNCDTILKH TLNSHNHNRN SATKNLGKIF GNGNNFPHSP SSTKNENAKT 250 260 270 280 290 300 GANSCEHDHY EKHLSHKQAP THHQKIHPEE KLYVCTECVM GFTQKSHLFE HQRIHAGEKS 310 320 330 340 350 360 RECDKSNKVF PQKPQVDVHP SVYTGEKPYL CTQCGKVFTL KSNLITHQKI HTGQKPYKCS 370 380 390 400 410 420 ECGKAFFQRS DLFRHLRIHT GEKPYECSEC GKGFSQNSDL SIHQKTHTGE KHYECNECGK 430 440 450 460 470 480 AFTRKSALRM HQRIHTGEKP YVCADCGKAF IQKSHFNTHQ RIHTGEKPYE CSDCGKSFTK 490 500 510 520 530 540 KSQLHVHQRI HTGEKPYICT ECGKVFTHRT NLTTHQKTHT GEKPYMCAEC GKAFTDQSNL 550 560 570 580 590 600 IKHQKTHTGE KPYKCNGCGK AFIWKSRLKI HQKSHIGERH YECKDCGKAF IQKSTLSVHQ 610 620 630 640 650 660 RIHTGEKPYV CPECGKAFIQ KSHFIAHHRI HTGEKPYECS DCGKCFTKKS QLRVHQKIHT 670 680 690 700 710 720 GEKPNICAEC GKAFTDRSNL ITHQKIHTRE KPYECGDCGK TFTWKSRLNI HQKSHTGERH 730 740 750 760 770 780 YECSKCGKAF IQKATLSMHQ IIHTGKKPYA CTECQKAFTD RSNLIKHQKM HSGEKRYKAS D
	Isoform 3 [UniParc]. Checksum: 076E49C3D94E3255	FASTA	789	90,377
	10 20 30 40 50 60 MGTLPHGPRP WLQRDVAAHV SADHAALNSI VSLQASVSFE DVTVDFSKEE WQHLDPAQRR 70 80 90 100 110 120 LYWDVTLENY SHLLSVGYQI PKSEAAFKLE QGEGPWMLEG EAPHQSCSGE AIGKMQQQGI 130 140 150 160 170 180 PGGIFFHCER FDQPIGEDSL CSILEELWQD NDQLEQRQEN QNNLLSHVKV LIKERGYEHK 190 200 210 220 230 240 NIEKIIHVTT KLVPSIKRLH NCDTILKHTL NSHNHNRNSA TKNLGKIFGN GNNFPHSPSS 250 260 270 280 290 300 TKNENAKTGA NSCEHDHYEK HLSHKQAPTH HQKIHPEEKL YVCTECVMGF TQKSHLFEHQ 310 320 330 340 350 360 RIHAGEKSRE CDKSNKVFPQ KPQVDVHPSV YTGEKPYLCT QCGKVFTLKS NLITHQKIHT 370 380 390 400 410 420 GQKPYKCSEC GKAFFQRSDL FRHLRIHTGE KPYECSECGK GFSQNSDLSI HQKTHTGEKH 430 440 450 460 470 480 YECNECGKAF TRKSALRMHQ RIHTGEKPYV CADCGKAFIQ KSHFNTHQRI HTGEKPYECS 490 500 510 520 530 540 DCGKSFTKKS QLHVHQRIHT GEKPYICTEC GKVFTHRTNL TTHQKTHTGE KPYMCAECGK 550 560 570 580 590 600 AFTDQSNLIK HQKTHTGEKP YKCNGCGKAF IWKSRLKIHQ KSHIGERHYE CKDCGKAFIQ 610 620 630 640 650 660 KSTLSVHQRI HTGEKPYVCP ECGKAFIQKS HFIAHHRIHT GEKPYECSDC GKCFTKKSQL 670 680 690 700 710 720 RVHQKIHTGE KPNICAECGK AFTDRSNLIT HQKIHTREKP YECGDCGKTF TWKSRLNIHQ 730 740 750 760 770 780 KSHTGERHYE CSKCGKAFIQ KATLSMHQII HTGKKPYACT ECQKAFTDRS NLIKHQKMHS GEKRYKASD
	Isoform 4 [UniParc]. Checksum: D41671F68B91656B	FASTA	693	79,538
	10 20 30 40 50 60 MLEGEAPHQS CSGEAIGKMQ QQGIPGGIFF HCERFDQPIG EDSLCSILEE LWQDNDQLEQ 70 80 90 100 110 120 RQENQNNLLS HVKVLIKERG YEHKNIEKII HVTTKLVPSI KRLHNCDTIL KHTLNSHNHN 130 140 150 160 170 180 RNSATKNLGK IFGNGNNFPH SPSSTKNENA KTGANSCEHD HYEKHLSHKQ APTHHQKIHP 190 200 210 220 230 240 EEKLYVCTEC VMGFTQKSHL FEHQRIHAGE KSRECDKSNK VFPQKPQVDV HPSVYTGEKP 250 260 270 280 290 300 YLCTQCGKVF TLKSNLITHQ KIHTGQKPYK CSECGKAFFQ RSDLFRHLRI HTGEKPYECS 310 320 330 340 350 360 ECGKGFSQNS DLSIHQKTHT GEKHYECNEC GKAFTRKSAL RMHQRIHTGE KPYVCADCGK 370 380 390 400 410 420 AFIQKSHFNT HQRIHTGEKP YECSDCGKSF TKKSQLHVHQ RIHTGEKPYI CTECGKVFTH 430 440 450 460 470 480 RTNLTTHQKT HTGEKPYMCA ECGKAFTDQS NLIKHQKTHT GEKPYKCNGC GKAFIWKSRL 490 500 510 520 530 540 KIHQKSHIGE RHYECKDCGK AFIQKSTLSV HQRIHTGEKP YVCPECGKAF IQKSHFIAHH 550 560 570 580 590 600 RIHTGEKPYE CSDCGKCFTK KSQLRVHQKI HTGEKPNICA ECGKAFTDRS NLITHQKIHT 610 620 630 640 650 660 REKPYECGDC GKTFTWKSRL NIHQKSHTGE RHYECSKCGK AFIQKATLSM HQIIHTGKKP 670 680 690 YACTECQKAF TDRSNLIKHQ KMHSGEKRYK ASD
	Isoform 5 [UniParc]. Checksum: 14FF48F2EADA1687	FASTA	813	92,948
	10 20 30 40 50 60 MAANGDSPPW SPALAAEGRG SSCEVRRERT PEARIHSVKR YPDLSPGPKG RSSIVSLQAS 70 80 90 100 110 120 VSFEDVTVDF SKEEWQHLDP AQRRLYWDVT LENYSHLLSV GYQIPKSEAA FKLEQGEGPW 130 140 150 160 170 180 MLEGEAPHQS CSGEAIGKMQ QQGIPGGIFF HCERFDQPIG EDSLCSILEE LWQDNDQLEQ 190 200 210 220 230 240 RQENQNNLLS HVKVLIKERG YEHKNIEKII HVTTKLVPSI KRLHNCDTIL KHTLNSHNHN 250 260 270 280 290 300 RNSATKNLGK IFGNGNNFPH SPSSTKNENA KTGANSCEHD HYEKHLSHKQ APTHHQKIHP 310 320 330 340 350 360 EEKLYVCTEC VMGFTQKSHL FEHQRIHAGE KSRECDKSNK VFPQKPQVDV HPSVYTGEKP 370 380 390 400 410 420 YLCTQCGKVF TLKSNLITHQ KIHTGQKPYK CSECGKAFFQ RSDLFRHLRI HTGEKPYECS 430 440 450 460 470 480 ECGKGFSQNS DLSIHQKTHT GEKHYECNEC GKAFTRKSAL RMHQRIHTGE KPYVCADCGK 490 500 510 520 530 540 AFIQKSHFNT HQRIHTGEKP YECSDCGKSF TKKSQLHVHQ RIHTGEKPYI CTECGKVFTH 550 560 570 580 590 600 RTNLTTHQKT HTGEKPYMCA ECGKAFTDQS NLIKHQKTHT GEKPYKCNGC GKAFIWKSRL 610 620 630 640 650 660 KIHQKSHIGE RHYECKDCGK AFIQKSTLSV HQRIHTGEKP YVCPECGKAF IQKSHFIAHH 670 680 690 700 710 720 RIHTGEKPYE CSDCGKCFTK KSQLRVHQKI HTGEKPNICA ECGKAFTDRS NLITHQKIHT 730 740 750 760 770 780 REKPYECGDC GKTFTWKSRL NIHQKSHTGE RHYECSKCGK AFIQKATLSM HQIIHTGKKP 790 800 810 YACTECQKAF TDRSNLIKHQ KMHSGEKRYK ASD
	Isoform 6 [UniParc]. Checksum: B0EF06F2B69F97F1	FASTA	779	89,093
	10 20 30 40 50 60 MAANGDSPPW SPALAAEGRG SSCEASVSFE DVTVDFSKEE WQHLDPAQRR LYWDVTLENY 70 80 90 100 110 120 SHLLSVGYQI PKSEAAFKLE QGEGPWMLEG EAPHQSCSGE AIGKMQQQGI PGGIFFHCER 130 140 150 160 170 180 FDQPIGEDSL CSILEELWQD NDQLEQRQEN QNNLLSHVKV LIKERGYEHK NIEKIIHVTT 190 200 210 220 230 240 KLVPSIKRLH NCDTILKHTL NSHNHNRNSA TKNLGKIFGN GNNFPHSPSS TKNENAKTGA 250 260 270 280 290 300 NSCEHDHYEK HLSHKQAPTH HQKIHPEEKL YVCTECVMGF TQKSHLFEHQ RIHAGEKSRE 310 320 330 340 350 360 CDKSNKVFPQ KPQVDVHPSV YTGEKPYLCT QCGKVFTLKS NLITHQKIHT GQKPYKCSEC 370 380 390 400 410 420 GKAFFQRSDL FRHLRIHTGE KPYECSECGK GFSQNSDLSI HQKTHTGEKH YECNECGKAF 430 440 450 460 470 480 TRKSALRMHQ RIHTGEKPYV CADCGKAFIQ KSHFNTHQRI HTGEKPYECS DCGKSFTKKS 490 500 510 520 530 540 QLHVHQRIHT GEKPYICTEC GKVFTHRTNL TTHQKTHTGE KPYMCAECGK AFTDQSNLIK 550 560 570 580 590 600 HQKTHTGEKP YKCNGCGKAF IWKSRLKIHQ KSHIGERHYE CKDCGKAFIQ KSTLSVHQRI 610 620 630 640 650 660 HTGEKPYVCP ECGKAFIQKS HFIAHHRIHT GEKPYECSDC GKCFTKKSQL RVHQKIHTGE 670 680 690 700 710 720 KPNICAECGK AFTDRSNLIT HQKIHTREKP YECGDCGKTF TWKSRLNIHQ KSHTGERHYE 730 740 750 760 770 CSKCGKAFIQ KATLSMHQII HTGKKPYACT ECQKAFTDRS NLIKHQKMHS GEKRYKASD
	Isoform 7 [UniParc]. Checksum: 3A0B309355565CA4	FASTA	745	85,693
	10 20 30 40 50 60 MGTLPHGPRP WLQRDVAAHV SIVSLQASVS FEDVTVDFSK EEWQHLDPAQ RRLYWDVTLE 70 80 90 100 110 120 NYSHLLSVGY QIPKSEAAFK LEQGEGPWML EGEAPHQSCS EELWQDNDQL EQRQENQNNL 130 140 150 160 170 180 LSHVKVLIKE RGYEHKNIEK IIHVTTKLVP SIKRLHNCDT ILKHTLNSHN HNRNSATKNL 190 200 210 220 230 240 GKIFGNGNNF PHSPSSTKNE NAKTGANSCE HDHYEKHLSH KQAPTHHQKI HPEEKLYVCT 250 260 270 280 290 300 ECVMGFTQKS HLFEHQRIHA GEKSRECDKS NKVFPQKPQV DVHPSVYTGE KPYLCTQCGK 310 320 330 340 350 360 VFTLKSNLIT HQKIHTGQKP YKCSECGKAF FQRSDLFRHL RIHTGEKPYE CSECGKGFSQ 370 380 390 400 410 420 NSDLSIHQKT HTGEKHYECN ECGKAFTRKS ALRMHQRIHT GEKPYVCADC GKAFIQKSHF 430 440 450 460 470 480 NTHQRIHTGE KPYECSDCGK SFTKKSQLHV HQRIHTGEKP YICTECGKVF THRTNLTTHQ 490 500 510 520 530 540 KTHTGEKPYM CAECGKAFTD QSNLIKHQKT HTGEKPYKCN GCGKAFIWKS RLKIHQKSHI 550 560 570 580 590 600 GERHYECKDC GKAFIQKSTL SVHQRIHTGE KPYVCPECGK AFIQKSHFIA HHRIHTGEKP 610 620 630 640 650 660 YECSDCGKCF TKKSQLRVHQ KIHTGEKPNI CAECGKAFTD RSNLITHQKI HTREKPYECG 670 680 690 700 710 720 DCGKTFTWKS RLNIHQKSHT GERHYECSKC GKAFIQKATL SMHQIIHTGK KPYACTECQK 730 740 AFTDRSNLIK HQKMHSGEKR YKASD
	Isoform 8 [UniParc]. Checksum: 0BC6B01F1914D57E	FASTA	743	85,188
	10 20 30 40 50 60 MAANGDSPPW SPALAAEGRG SSCEASVSFE DVTVDFSKEE WQHLDPAQRR LYWDVTLENY 70 80 90 100 110 120 SHLLSVGYQI PKSEAAFKLE QGEGPWMLEG EAPHQSCSEE LWQDNDQLEQ RQENQNNLLS 130 140 150 160 170 180 HVKVLIKERG YEHKNIEKII HVTTKLVPSI KRLHNCDTIL KHTLNSHNHN RNSATKNLGK 190 200 210 220 230 240 IFGNGNNFPH SPSSTKNENA KTGANSCEHD HYEKHLSHKQ APTHHQKIHP EEKLYVCTEC 250 260 270 280 290 300 VMGFTQKSHL FEHQRIHAGE KSRECDKSNK VFPQKPQVDV HPSVYTGEKP YLCTQCGKVF 310 320 330 340 350 360 TLKSNLITHQ KIHTGQKPYK CSECGKAFFQ RSDLFRHLRI HTGEKPYECS ECGKGFSQNS 370 380 390 400 410 420 DLSIHQKTHT GEKHYECNEC GKAFTRKSAL RMHQRIHTGE KPYVCADCGK AFIQKSHFNT 430 440 450 460 470 480 HQRIHTGEKP YECSDCGKSF TKKSQLHVHQ RIHTGEKPYI CTECGKVFTH RTNLTTHQKT 490 500 510 520 530 540 HTGEKPYMCA ECGKAFTDQS NLIKHQKTHT GEKPYKCNGC GKAFIWKSRL KIHQKSHIGE 550 560 570 580 590 600 RHYECKDCGK AFIQKSTLSV HQRIHTGEKP YVCPECGKAF IQKSHFIAHH RIHTGEKPYE 610 620 630 640 650 660 CSDCGKCFTK KSQLRVHQKI HTGEKPNICA ECGKAFTDRS NLITHQKIHT REKPYECGDC 670 680 690 700 710 720 GKTFTWKSRL NIHQKSHTGE RHYECSKCGK AFIQKATLSM HQIIHTGKKP YACTECQKAF 730 740 TDRSNLIKHQ KMHSGEKRYK ASD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Coding region intron/exon organization, alternative splicing and X-chromosome inactivation of the KRAB/FPB-domain-containing human zinc finger gene ZNF41." Rosati M., Franze A., Matarazzo M.R., Grimaldi G. Cytogenet. Cell Genet. 85:291-296(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING.
[2]	"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] (ISOFORMS 4 AND 6). Tissue: Brain and Hippocampus.
[3]	"The DNA sequence of the human X chromosome." Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R. Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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] (ISOFORM 6). Tissue: Uterus.
[6]	"Isolation and expression analysis of a human zinc finger gene (ZNF41) located on the short arm of the X chromosome." Franze A., Archidiacono N., Rocchi M., Marino M., Grimaldi G. Genomics 9:728-736(1991) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 280-821.
[7]	"Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation." Shoichet S.A., Hoffmann K., Menzel C., Trautmann U., Moser B., Hoeltzenbein M., Echenne B., Partington M., Van Bokhoven H., Moraine C., Fryns J.-P., Chelly J., Rott H.-D., Ropers H.-H., Kalscheuer V.M. Am. J. Hum. Genet. 73:1341-1354(2003) [PubMed] [Europe PMC] [Abstract] Cited for: ALTERNATIVE SPLICING, TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION, VARIANT MRX89 LEU-153, VARIANTS ARG-167 AND GLU-357.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	X60155 mRNA. Translation: CAB51740.1. AJ010017 mRNA. Translation: CAB53035.1. AJ010018 mRNA. Translation: CAB53036.1. AJ010019 mRNA. Translation: CAB53037.1. AJ010020 mRNA. Translation: CAB53038.1. AJ010021 mRNA. Translation: CAB53039.1. AJ010022 mRNA. Translation: CAB53040.1. AJ010023 mRNA. Translation: CAB53041.1. AK290021 mRNA. Translation: BAF82710.1. AK294858 mRNA. Translation: BAG57962.1. AL590283, AL590223 Genomic DNA. Translation: CAI41627.1. AL590223, AL590283 Genomic DNA. Translation: CAI41591.1. CH471164 Genomic DNA. Translation: EAW59303.1. BC015023 mRNA. Translation: AAH15023.1. M92443 Genomic DNA. Translation: AAA61312.1.
IPI	IPI00020900. IPI00221192. IPI00221194. IPI00221195. IPI00221196. IPI00221197. IPI00221198. IPI00221200.
PIR	A54661.
RefSeq	NP_009061.1. NM_007130.2. NP_700359.1. NM_153380.2.
UniGene	Hs.496074. Hs.737678.
3D structure databases
ProteinModelPortal	P51814.
ModBase	Search...
Protein-protein interaction databases
IntAct	P51814. 1 interaction.
MINT	MINT-1188906.
PTM databases
PhosphoSite	P51814.
Polymorphism databases
DMDM	20141930.
Proteomic databases
PaxDb	P51814.
PRIDE	P51814.
Protocols and materials databases
DNASU	7592.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000313116; ENSP00000315173; ENSG00000147124. ENST00000377065; ENSP00000366265; ENSG00000147124. ENST00000397050; ENSP00000380243; ENSG00000147124.
GeneID	7592.
KEGG	hsa:7592.
UCSC	uc004dhs.4. human. uc004dhu.4. human. uc004dhv.4. human. uc004dhw.4. human. uc004dhx.4. human.
Organism-specific databases
CTD	7592.
GeneCards	GC0XM047305.
HGNC	HGNC:13107. ZNF41.
MIM	300848. phenotype. 314995. gene.
neXtProt	NX_P51814.
Orphanet	777. X-linked nonsyndromic intellectual deficit.
PharmGKB	PA37682.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5048.
HOVERGEN	HBG018163.
InParanoid	P51814.
KO	K09228.
OMA	FIAHHRI.
Enzyme and pathway databases
Reactome	REACT_71. Gene Expression.
Gene expression databases
ArrayExpress	P51814.
Bgee	P51814.
Genevestigator	P51814.
GermOnline	ENSG00000147124. Homo sapiens.
Family and domain databases
Gene3D	3.30.160.60. 18 hits.
InterPro	IPR001909. Krueppel-associated_box. IPR007087. Znf_C2H2. IPR015880. Znf_C2H2-like. IPR013087. Znf_C2H2/integrase_DNA-bd. [Graphical view]
Pfam	PF01352. KRAB. 1 hit. PF00096. zf-C2H2. 1 hit. [Graphical view]
SMART	SM00349. KRAB. 1 hit. SM00355. ZnF_C2H2. 17 hits. [Graphical view]
SUPFAM	SSF109640. Krueppel-associated_box. 1 hit.
PROSITE	PS50805. KRAB. 1 hit. PS00028. ZINC_FINGER_C2H2_1. 17 hits. PS50157. ZINC_FINGER_C2H2_2. 18 hits. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	7592.
NextBio	29667.
SOURCE	Search...

Entry information

Entry name

ZNF41_HUMAN

Accession

Primary (citable) accession number: P51814
Secondary accession number(s): A8K1V6 , B4DH01, Q96LE8, Q9UMC4, Q9UMV5, Q9UMV6, Q9UMV7, Q9UMV8, Q9UMV9, Q9UMW0, Q9UMW1

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1996
Last sequence update:	January 23, 2002
Last modified:	May 1, 2013
This is version 136 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.