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FAM111B (FAM111 trypsin like peptidase B)

Gene

374393

FAM111 trypsin like peptidase B

FAM111B

CANP, POIKTMP

11q12.1

This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigm

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs551644836	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs587777236	T>G	Pathogenic	Coding sequence variant, missense variant
rs587777237	A>G	Pathogenic	Coding sequence variant, missense variant
rs587777238	G>A	Pathogenic	Coding sequence variant, missense variant
rs886039851	AGA>-	Pathogenic	Inframe deletion, coding sequence variant
rs886039852	C>A	Pathogenic	Missense variant, coding sequence variant
rs1555014282	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1565191262	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(105)

miRTarBase ID	miRNA	Experiments	Reference
MIRT026841	hsa-miR-192-5p	Microarray	19074876
MIRT977246	hsa-miR-1206	CLIP-seq
MIRT977247	hsa-miR-1226	CLIP-seq
MIRT977248	hsa-miR-150	CLIP-seq
MIRT977249	hsa-miR-217	CLIP-seq
MIRT977250	hsa-miR-23a	CLIP-seq
MIRT977251	hsa-miR-23b	CLIP-seq
MIRT977252	hsa-miR-23c	CLIP-seq
MIRT977253	hsa-miR-3121-5p	CLIP-seq
MIRT977254	hsa-miR-3177-5p	CLIP-seq
MIRT977255	hsa-miR-3187-3p	CLIP-seq
MIRT977256	hsa-miR-362-5p	CLIP-seq
MIRT977257	hsa-miR-3657	CLIP-seq
MIRT977258	hsa-miR-3658	CLIP-seq
MIRT977259	hsa-miR-3944-5p	CLIP-seq
MIRT977260	hsa-miR-4328	CLIP-seq
MIRT977261	hsa-miR-4435	CLIP-seq
MIRT977262	hsa-miR-450b-5p	CLIP-seq
MIRT977263	hsa-miR-4529-5p	CLIP-seq
MIRT977264	hsa-miR-4659a-3p	CLIP-seq
MIRT977265	hsa-miR-4659b-3p	CLIP-seq
MIRT977266	hsa-miR-4669	CLIP-seq
MIRT977267	hsa-miR-4701-5p	CLIP-seq
MIRT977268	hsa-miR-4713-5p	CLIP-seq
MIRT977269	hsa-miR-4716-5p	CLIP-seq
MIRT977270	hsa-miR-4733-3p	CLIP-seq
MIRT977271	hsa-miR-4778-3p	CLIP-seq
MIRT977272	hsa-miR-500b	CLIP-seq
MIRT977273	hsa-miR-518a-5p	CLIP-seq
MIRT977274	hsa-miR-527	CLIP-seq
MIRT977275	hsa-miR-532-3p	CLIP-seq
MIRT977276	hsa-miR-548g	CLIP-seq
MIRT977277	hsa-miR-548s	CLIP-seq
MIRT977278	hsa-miR-588	CLIP-seq
MIRT977279	hsa-miR-592	CLIP-seq
MIRT977280	hsa-miR-597	CLIP-seq
MIRT977281	hsa-miR-599	CLIP-seq
MIRT977282	hsa-miR-888	CLIP-seq
MIRT977283	hsa-miR-1267	CLIP-seq
MIRT977284	hsa-miR-1297	CLIP-seq
MIRT977285	hsa-miR-26a	CLIP-seq
MIRT977286	hsa-miR-26b	CLIP-seq
MIRT977253	hsa-miR-3121-5p	CLIP-seq
MIRT977255	hsa-miR-3187-3p	CLIP-seq
MIRT977287	hsa-miR-3189-5p	CLIP-seq
MIRT977256	hsa-miR-362-5p	CLIP-seq
MIRT977261	hsa-miR-4435	CLIP-seq
MIRT977288	hsa-miR-4465	CLIP-seq
MIRT977289	hsa-miR-4520b-3p	CLIP-seq
MIRT977290	hsa-miR-4529-3p	CLIP-seq
MIRT977263	hsa-miR-4529-5p	CLIP-seq
MIRT977291	hsa-miR-4650-3p	CLIP-seq
MIRT977264	hsa-miR-4659a-3p	CLIP-seq
MIRT977265	hsa-miR-4659b-3p	CLIP-seq
MIRT977267	hsa-miR-4701-5p	CLIP-seq
MIRT977292	hsa-miR-4747-3p	CLIP-seq
MIRT977293	hsa-miR-4773	CLIP-seq
MIRT977271	hsa-miR-4778-3p	CLIP-seq
MIRT977272	hsa-miR-500b	CLIP-seq
MIRT977277	hsa-miR-548s	CLIP-seq
MIRT977278	hsa-miR-588	CLIP-seq
MIRT977246	hsa-miR-1206	CLIP-seq
MIRT977294	hsa-miR-2682	CLIP-seq
MIRT977253	hsa-miR-3121-5p	CLIP-seq
MIRT977295	hsa-miR-375	CLIP-seq
MIRT977260	hsa-miR-4328	CLIP-seq
MIRT977296	hsa-miR-449c	CLIP-seq
MIRT977297	hsa-miR-4506	CLIP-seq
MIRT977298	hsa-miR-4726-3p	CLIP-seq
MIRT977299	hsa-miR-622	CLIP-seq
MIRT977300	hsa-miR-940	CLIP-seq
MIRT977247	hsa-miR-1226	CLIP-seq
MIRT2223952	hsa-miR-135a	CLIP-seq
MIRT2223953	hsa-miR-135b	CLIP-seq
MIRT2223954	hsa-miR-2113	CLIP-seq
MIRT977249	hsa-miR-217	CLIP-seq
MIRT977250	hsa-miR-23a	CLIP-seq
MIRT977251	hsa-miR-23b	CLIP-seq
MIRT977252	hsa-miR-23c	CLIP-seq
MIRT2223955	hsa-miR-3146	CLIP-seq
MIRT2223956	hsa-miR-3160-5p	CLIP-seq
MIRT2223957	hsa-miR-330-3p	CLIP-seq
MIRT2223958	hsa-miR-3942-3p	CLIP-seq
MIRT2223959	hsa-miR-3945	CLIP-seq
MIRT2223960	hsa-miR-4253	CLIP-seq
MIRT2223961	hsa-miR-4687-3p	CLIP-seq
MIRT977269	hsa-miR-4716-5p	CLIP-seq
MIRT977298	hsa-miR-4726-3p	CLIP-seq
MIRT977270	hsa-miR-4733-3p	CLIP-seq
MIRT977273	hsa-miR-518a-5p	CLIP-seq
MIRT977274	hsa-miR-527	CLIP-seq
MIRT977279	hsa-miR-592	CLIP-seq
MIRT977280	hsa-miR-597	CLIP-seq
MIRT977281	hsa-miR-599	CLIP-seq
MIRT977250	hsa-miR-23a	CLIP-seq
MIRT977251	hsa-miR-23b	CLIP-seq
MIRT977252	hsa-miR-23c	CLIP-seq
MIRT2223959	hsa-miR-3945	CLIP-seq
MIRT2223960	hsa-miR-4253	CLIP-seq
MIRT977250	hsa-miR-23a	CLIP-seq
MIRT977251	hsa-miR-23b	CLIP-seq
MIRT977252	hsa-miR-23c	CLIP-seq
MIRT977250	hsa-miR-23a	CLIP-seq
MIRT977251	hsa-miR-23b	CLIP-seq
MIRT977252	hsa-miR-23c	CLIP-seq

Show/Hide all(6)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IBA	21873635
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA	21873635
GO:0006260	Process	DNA replication	IBA	21873635
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA

MIM	HGNC	e!Ensembl
615584	24200	ENSG00000189057

Protein

UniProt ID

Q6SJ93

Protein name

Serine protease FAM111B (EC 3.4.21.-) (Cancer-associated nucleoprotein)

Protein function

Serine protease.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13365	Trypsin_2	475 → 664		Domain

Sequence

MNSMKTEENKSFSAMEDDQRTRPEVSKDTVMKQTHADTPVDHCLSGIRKCSSTFKLKSEV
NKHETALEMQNPNLNNKECCFTFTLNGNSRKLDRSVFTAYGKPSESIYSALSANDYFSER
IKNQFNKNIIVYEEKTIDGHINLGMPLKCLPSDSHFKITFGQRKSSKEDGHILRQCENPN
MECILFHVVAIGRTRKKIVKINELHEKGSKLCIYALKGETIEGALCKDGRFRSDIGEFEW
KLKEGHKKIYGKQSMVDEVSGKVLEMDISKKKALQQKDIHKKIKQNESATDEINHQSLIQ
SKKKVHKPKKDGETKDVEHSREQILPPQDLSHYIKDKTRQTIPRIRNYYFCSLPRKYRQI
NSQVRRRPHLGRRYAINLDVQKEAINLLKNYQTLNEAIMHQYPNFKEEAQWVRKYFREEQ
KRMNLSPAKQFNIYKKDFGKMTANSVSVATCEQLTYYSKSVGFMQWDNNGNTGNATCFVF
NGGYIFTCRHVVHLMVGKNTHPSLWPDIISKCAKVTFTYTEFCPTPDNWFSIEPWLKVSN
ENLDYAILKLKENGNAFPPGLWRQISPQPSTGLIYLIGHPEGQIKKIDGCTVIPLNERLK
KYPNDCQDGLVDLYDTTSNVYCMFTQRSFLSEVWNTHTLSYDTCFSDGSSGSPVFNASGK
LVALHTFGLFYQRGFNVHALIEFGYSMDSILCDIKKTNESLYKSLNDEKLETYDEEKGKQ
ESSLQDHQIEPMEC

Sequence length

734

Interactions

View interactions

Associated diseases

Show/Hide Causal Diseases (4)

Causal
Disease name	Disease term	dbSNP ID	References
Papillary renal carcinoma	Papillary Renal Cell Carcinoma	rs5030823, rs2137087134, rs121913668, rs121913669, rs121913670, rs121913671, rs121913673, rs121913243, rs786202724	22138691
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS	rs587777236, rs587777237, rs587777238	26495788, 24268661, 26471370
Pulmonary fibrosis	Pulmonary Fibrosis	rs121918666, rs199422300, rs121917737, rs121917834, rs199422294, rs201159197, rs199422297, rs199422305, rs751381953, rs876661305, rs878853260, rs863223336, rs786205702, rs1555811762, rs1060502990, rs1555903332, rs1554038539, rs1554042899, rs938938578
Renal carcinoma	Renal Cell Carcinoma, Conventional (Clear Cell) Renal Cell Carcinoma, Sarcomatoid Renal Cell Carcinoma, Collecting Duct Carcinoma of the Kidney	rs121913668, rs121913670, rs121913243, rs786202724	22138691

Show/Hide Unknown Diseases (7)

Unknown
Disease name	Disease term	dbSNP ID	References
Alopecia	Alopecia
Chromophobe carcinoma	Chromophobe Renal Cell Carcinoma	rs137853247	22138691
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome	Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Hypohidrosis	Hypohidrosis
Liver carcinoma	Liver carcinoma		28284560
Myositis	Myositis
Poikiloderma	Poikiloderma

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